New Genetic Risk Factor for ALS

Amyotophic lateral sclerosis, also referred to as Lou Gehrig's diseasde is a disease in which there is progressive degeneration of the motor cells in the spinal cord and brain.  The degeneration inhibits nerve impulses from reaching muscles and the person will soon experience muscle weakness and eventually deterioration.  There is no known cure for ALS.  In recent studies biologists and neuroscientists have been ablidene to locate and identify a  new genetic risk factor.  They found evidence that mutations in the ataxin 2 gene were a genetic contributor to the disease.  The study showed that expansions of a run of the amino acid, glutamine, in ataxin 2 were associated with an increase risk for ALS, a frequency of 4.6% for all ALS cases studied.  Since there is no cure, only treatments that slow progression this new information combined with known information about the relationship of TDP-43 to ALS may be able to offer new types of therapy to slow the disease even further.
The experiment was first carried out on yeast genes and studying TDP-43.  They then began studying on fruit flies, confirming the results they had with yeast and showing that ataxin 2 was a potent modifier of TDP-43.  The higher the levels of ataxin 2, the higher the level of toxicity was in the fruit fly.  Ataxin 2 has been related to other spinal cord diseases and it is now apparent that the more ataxin 2 glutamine repeated stretches a person has, the greater their risk for ALS.


A role for the polyQ protein ataxin 2 in ALS was identified using yeast (top left), fruit fly models (top middle), human ALS motor neurons (top right) and genetic analysis in ALS patients (above). (Credit: University of Pennsylvania)

Genetic Cause Discovered for Rare Disorder of Motor Neurons

Scientists have finally discovered the genetic cause for a rare disorder of motor neurons, and believe this may help find causes of similar  diseases.  There are many neuromuscular disorders which are caused by disorders in the motor neurons that ultimately damage the nervous system, and can weaken and destroy muscle.  Unfortunately most of these disorders do not have a cure.  The study led by  Professor Andrew Crosby and Dr Meriel McEntagart at St George's, University of London, has discovered the gene mutation that causes a rare disorder of motor neurons called distal hereditary motor neuropathy (dHMN).   dHMN typically affects muscles of the hands and feet, and can causes a hoarse voice. Symptoms usually begin during childhood, but can still appear up to the mid 30s. They used a family of 26 members, all of which carried the mutation but only 14 actually had the disease.   They found that mutation of the gene (SLC5A7)  disrupts the function of a molecule called the choline transporter (CHT). CHT is carries an essential nutrient called choline to the neuromuscular junctions. This disruption to the function of the neuromuscular junctions leads to the debilitating symptoms, and causes dHMN.



The researchers say their findings raise a possibility that mutations of the same gene or genes with similar roles might underlie other disorders involving motor neurons. This will not only open up treatment options for people suffering from dHMN but also potentially for many other terrible diseases relating to the nervous system and motor neurons.

 

Cloned Receptor Paves Way for New Breast and Prostate Cancer Treatment

According to Science Daily, researchers at Uppsala University have cloned a T-cell receptor that binds to an antigen associated with prostate cancer and breast cancer. T cells that have been genetically equipped with this T-cell receptor have the ability to specifically kill prostate and breast cancer cells. It is said that genetically modified T cells (white blood corpuscles) have recently been shown to be extremely effective in treating certain forms of advanced cancer. T cells from the patient's own blood cells are isolated and equipped by genetic means with a new receptor that recognizes an antigen that is expressed in the tumour cells. These T cells are cultivated in a special clean room and then administered to the patient. Once inside the body, they seek out sub tumours and individual tumour cells and eliminate them.

This can be a huge break through in cancer treatment. They say "This is the first time anyone has succeeded in cloning a T-cell receptor targeting prostate antigen, and we hope we will have an opportunity to test T cells equipped with this receptor in a clinical study. In order to do so, we will probably need to enlist the help of American colleagues." It is incredible that there has been all of these studies that can have such a huge impact on so many peoples lives. I have a few people I know with cancer, and I believe the cure is out there somewhere.

Monkey Business: What Howler Monkeys Can Tell Us About the Role of Interbreeding in Human Evolution

According to Science Daily, University of Michigan led a study of interbreeding between two species of modern-day howler monkeys in Mexico. This is shedding light on why it's so difficult to confirm instances of hybridization among primates -- including early humans -- by relying on fossil remains. According to genetic studies, Neanderthals may have bred with anatomically modern humans tens of thousands of years ago in the Middle East.

This is hard to believe amongst most individuals. It's a hard concept to accept that humans were once mated with monkeys. They study was based on analyses of genetic and morphological data collected from live-captured monkeys over the past decade. Morphology is the branch of biology that deals with the form and structure of animals and plants.

The study was done with two different primate species. They were the mantled howler monkeys and black howler monkeys; which both diverged about 3 million years ago and differ in many respects, including behavior, appearance and the number of chromosomes they possess. Each occupies a unique geographical distribution except for the state of Tabasco in southeastern Mexico, where they coexist and interbreed in what's known as a hybrid zone. The researchers found that individuals of mixed ancestry who share most of their genome with one of the two species are physically indistinguishable from the pure individuals of that species.

Muscular Dystrophy Mystery Solved

According to Science Daily 250,000 people in the United States suffer from muscular dystrophy.  This is a condition which occurs when damaged muscle tissue is replaced with fibrous, bony or fatty tissue causing the muscle to loses function. Three years ago, scientists found a molecular compound that is essential  to curing the disease.  However, they didn't know how to make the compound bind to the muscle cells.  In a new study, published in the Proceedings of the National Academies of Science, MU School of Medicine scientists Yi Lai and Dongsheng Duan have discovered that dystrophin has a special 'claw' that is used to grab nNOS bringing it closer to the muscle cell.



Duchenne muscular dystrophy (DMD)  is a type of muscular dystrophy. These patients, which are mostly male, have a gene mutation that disrupts the production of dystrophin.  This is an important protein allowing muscle cell survival and function. Lack of dystrophin starts a chain reaction that eventually leads to complete muscle cell degeneration.  This protein also needs  "helpers" to maintain the muscle tissue.  One of the "helper" molecular compounds is nNOS, which produces nitric oxide that can keep muscle cells healthy after exercise.  Now that scientists  know that distrophin is a key factor in attracting the nNOS they can begin to develop  a therapy and hopefully a longer lifespan for patients suffering from the disease.

 

Gene Involved in Lung cancer

According to the Science Daily,  researchers have been identified the gene that involved in the growth and spread of non-cell lung cancer tumors. Person who carries these non-cells lung cancers usually, they have mutation on epidermal growth factor receptor (EGFR) gene. Due to the mutation on epidermal growth factor receptor, it causes the spread and growth of tumor. Researchers studied families who had this cancer which showed that mutation on EGFR also cause the increased communication of the Fn14 gene. Researcher noticed that higher communication of the Fn14 gene develops lung tumor formation; however, if Fn14 gene subdue, it reduces the metastasis in non-cell lung cancer.

[caption id="" align="alignright" width="360" caption="lung cancer"][/caption]

Another article according to Southern Medical Center, researcher found same gene mutation on EGFR gene for lung cancer. These gene mutations are highly found in adenocarcinomas type of lung cancer where both smokers and non-smoker are affected. Highly amount of mutation on EGFR gene found on nonsmokers rather than smoker. Also, another KRAS gene involved which signal the pathways of the EGFR which common in males than females. Researchers said that two pathways were identified which distinguish that KRAS gene mutation affect smokers and EGFR mutation affect non-smokers. Now, researcher are trying to look for better treatment. This article is inserting to me because two different gene involve in lung cancer also those are affected equally rather person smoke or not, it doesn't matter.

Bigfoot DNA Tests Prove Hairy Creature Exists, Genetic Researcher Says

Dr. Melba S. Ketchum, a veterinarian with 30 years experience in genetics research and forensics, says that she has found proof of the existence of Bigfoot. Her lab was given several samples of hair found by Bigfoot investigators. What they found was the DNA of a previously unknown primate species. In the near future, the results will be published in a peer-reviewed journal. Ketchum believes that the "Bigfoots" existed approximately 15,000 alongside humans. She says that they had sex with homo-sapien females and a new species was created. Like many Bigfoot DNA samples, Ketchum's analysis originally concluded that the mitochondrial DNA was human. After further analysis, however, she found that the DNA was only partially human. Critics insist that there are other explanations, such as contamination of the samples.



I find it interesting that the actual results have not been released, and will not be until the peer reviewed journal is published. I feel that this could either mean that the results are questionable, or that they are significant. If the results were significant, it is surprising that Dr. Ketchum would not jump at the chance to release them, however this may also be a sign of her professionalism. In fact, according to the article, she never believed in the existence of Bigfoot until her lab  found positive results. As far as other explanations, I  find it doubtful that every single sample could have been contaminated. I look forward to this scientific research being published.

75 New Genetic Regions Suspected to Influence Red Blood Cell Formation

A team of reserchers from Imperial College, London have gotten closer to revealing how red blood cells are formed and also how the body regulates the amount of haemoglobin that is packaged inside red blood cells. The researchers used genomic analysis techniques to figure out the possible genetic regions linked to red blood cell formatiom.

Hundreds of millions of fresh red blood cells have to be formed by blood stem cells to replace the ones that die each day. Haemoglobin is what gives blood its red color and it is a protein that captures oxygen from the lungs for transport and delivery to tissues. If there is an insuficient production of red blood cells than anaemia can occur, which is a very common disorder.  "This new genetic information is laying the foundations for future studies into the roots of anaemia by uncovering new biological pathways and mechanisms involved in controlling the size and number of red blood cells and the levels of haemoglobin."-Medical News Today.



By using the genomes of 135,367 people the researchers were able to identify 75 genetic regions that directly influenced six different physical parameters of red blood cells. More than half of these genetic regions are new in people. By using computational biology they found more than 3,000 genes that are responsible for protein production that lie close to these 75 regions. They then choose 121 'candidate' genes suspected to regulate a red blood cell trait and investigated their functions. The researchers used model systems from databases and also new data from fruit flies. They found that 29 out of the 121 genes were linked to red blood cell formation in mice. Also if these genes were turned off in mice than red blood cell production would be minimized. To gather even more information the researchers silenced the 121 genes in fruit flies. Eventhough fruitflies dont have red blood cells they still  share some of the gene functions leading to the formation of blood elements. Once the genes were silenced the data collected confirmed that sets of genes involved in controlling human red blood cell traits in people were also important for the formation of blood cells in fly. Dr Nicole Soranzo said, "This is exciting because it means that we can obtain extensive new insights into the genetics and biological pathway of human health by studying model organisms." Eventhough the researcher's study is not finished and the underlying mechanisms for most of the discovered genes are still unknown, their research could lead to better understanding of red blood cells and also better treatment for anaemia.

I think any new discovery about such an important part of our body is interesting. Before reading this i did not know that we were unaware of how red blood cells were produced and regulated. Hopefully this will open the doors to further discoveries and eventually we will completely understand how red blood cells are controlled in humans.

Genetic research confirms that non-Africans are part Neanderthal

Some of the human X chromosome originates from Neanderthals and is found exclusively in people outside Africa, according to an international team of researchers led by Damian Labuda of the Department of Pediatrics at the University of Montreal and the CHU Sainte-Justine Research Center. The research was published in the July issue of Molecular Biology and Evolution. Neanderthals, whose ancestors left Africa about 400,000 to 800,000 years ago, evolved in what is now mainly France, Spain, Germany and Russia, and are thought to have lived until about 30,000 years ago. Meanwhile, early modern humans left Africa about 80,000 to 50,000 years ago.

Dr. Labuda and his team almost a decade ago had identified a piece of DNA, called a haplotype, in the human X chromosome that seemed different and whose origins they questioned. When the Neanderthal genome was sequenced in 2010, they quickly compared 6000 chromosomes from all parts of the world to the Neanderthal haplotype. The Neanderthal sequence was present in peoples across all continents, except for sub-Saharan Africa, and including Australia. This is an interesting find, which hopefully will be used to determine a more specific path of lineage in our evolutionary chain.

Obesity Reversed in Mice by Manipulating Production of an Enzyme

Scientists at  Virginia Commonwealth University have reversed the condition of obesity in mice by manipulating an enzyme named tyrosine-protein kinase-2 (Tyk2). The researchers had discovered that Tyk2 regulates obesity in a type of fat tissue called brown adipose tissue.(BAT) It was discovered that Tyk2 was regulated in mice by diet. When obese human fat tissue was analyzed it became apparant that the levels of tyk2 were 50% lower or more drastic. There are two different types of fat; white adipose tissue(WAT) which is responsible for energy storage, while BAT is responsible for the regulation of energy usage.  BAT activity is associated with metabolic syndrome which could impact 25% of people. This news has came at a time where 68% of Americans are overweight or obese. Those with obesity are at higher risk for cardiovascular disease, cancer, and diabetes. By activating a protein signal transducer that activated an enzyme called STAT 3 scientists were able to elevate levels of Tyk2, which in return reversed obesity in mice.



As an individual that has seen the effects of obesity in the family the news of obesity reversal is great news. The ability to for an individual to become of healthy weight not only impacts life expectancy, but also the quality of life. It amazes me what science is able to do in terms of improving the quality of life, but also hits a soft spot inside when I am able to imagine my father to have an improved quality of life. Multiple attempts have been made to help the problem, but in the end obesity has the upper hand in the battle. Just the quality of life improvement makes this discovery one that has me smiling. The health impacts as well with the reduction of cancer, diabetes, and cardiovascular disease risk could help 68% of America.

Hundreds Of Potential Drug Targets For Huntington's Disease Identified By Genome-Scale Study

Researchers at the Buck Institute have identified hundreds of identifiable “druggable molecular targets” linked to the deadly Huntington’s disease. By using RNA interference technology, the researchers were able to create a road map that could reveal to this mysterious disease. Huntington’s disease is a rare genetic disorder that is inherited. The strange part of this rare disease is that it is a dominant allele. Huntington’s disease does not show its motor skill regression symptoms until the adult stage of a human’s life. This genetic disease affects 150,000 that are at risk for this disease that causes the release of neuronal toxins. The research provided exhibits the benefits pharmaceutical modification of the RRAS gene (gene that controls motility and neural development) could benefit those with Huntington’s disease.

Mutation and Methylation May Worsen the Effects of Child Abuse

It is common knowledge in the psychology field that while child abuse affects all survivors in a negative way, some survivors are affected much more severely than others. While some survivors can work through their past, others seem to be permanently affected by their experiences – people who have been abused as children are at higher risk for mental disorders and suicide. Previously, psychologists had a hard time predicting how much people will be affected by their past traumas.

However, according to Science Daily, researchers at the Max Plank Institute for Psychiatry may have found an epigenetic explanation as to why some people are permanently affected while some are not. Earlier this year, researchers have discovered that child abuse may cause permanent epigenetic changes in the way the body handles stress. The researchers from Max Plank built on the earlier research and discovered that people with a specific variation of the FKPB5 gene are at much greater risk to be permanently affected by traumatic experiences in their childhood than those without the gene. In particular, the trauma involved in child abuse causes a methyl group to be broken off and change the way the body responds to stress. Those who have the variant gene but have suffered only traumatic experiences in their adult years do not carry the same risk.

Research such as this is important because it stresses the importance of identifying and stopping child abuse. As a child abuse survivor, I’ve noticed that many people – including some teachers and other people who work closely with children – have a hard time understanding that child abuse greatly affects people of all backgrounds. You don’t know who has that variant gene by looking at someone, but you can treat all people with respect and speak out against abuse when you see it. I hope that this research will help others understand the severity of child abuse and take steps to end child abuse for once and for all.

Genetic clue discovered for why women outlive men

A new study of mitochondrial DNA in fruit flies offers a number of clues that might explain why females tend to outlive males across much of the animal kingdom, including humans.  They found male fruit flies appear to have mutations in their mitochondrial DNA that affect how fast they age and how long they live.  Senior author Damian Dowling, a research fellow in the Monash School of Biological Sciences, told the press, "All animals possess mitochondria, and the tendency for females to outlive males is common to many different species. Our results therefore suggest that the mitochondrial mutations we have uncovered will generally cause faster male aging across the animal kingdom.  Intriguingly, these same mutations have no effects on patterns of aging in females. They only affect males."  Thus, as mitochondrial DNA is passed down from generation to generation, the process of natural selection has no opportunity to "screen out" mutations in mitochondrial DNA that might be harmful to males. The researchers refer to this as a "sex-specific selective sieve".  For their study, Dowling and colleagues looked at differences in longevity and biological aging in male and female fruit flies whose mitochondria came from different origins.  They found genetic variations in both male and female mitochondrial DNA, but only the male ones could be linked to life expectancy. There weren't just a few mutations in one place, there were several, spread all over the mitochondrial genome.  The researchers suggest the mutations are entirely due to the way mitochondrial DNA is passed down through the female line.  Dowling said combining this latest study with their earlier work suggests mitochondria are "hotspots" for mutations that influence male health.

Cancer treatment could be improved by discovery of drug resistance biomarker

Cancer therapies often have short-lived benefits due to the emergence of genetic mutations that cause drug resistance. A key gene that determines resistance to a range of cancer drugs has been reported in a study published by Cell Press in the journal Cell. The study reveals a biomarker that can predict responses to cancer drugs and offers a strategy to treat drug-resistant tumors based on their genetic signature.  Non-small cell lung cancer (NSCLC) is the most common type of lung cancer, and NSCLC patients with a specific type of tumor mutation can be treated with a targeted therapy called crizotinib. But these patients frequently develop drug resistance as a result of secondary mutations in their tumors, through unknown genetic mechanisms.  Bernards and his team developed a screen to identify genes whose suppression confers resistance to crizotinib in NSCLC cells. They discovered that inhibition of MED12, a gene that is mutated in cancers, resulted in resistance to not only crizotinib, but also other targeted drugs and chemotherapy used to treat various types of cancer.  The researchers also found that MED12 suppression caused drug resistance by enhancing signaling through the transforming growth factor beta receptor (TGF-betaR) - a protein involved in cell growth and cell death. By inhibiting TGF-betaR signaling in MED12-deficient cells, they were able to restore drug responsiveness. The results suggest that TGF-betaR inhibitors, which are currently being tested in clinical trials, may counter drug resistance in cancer patients with MED12 mutations.

Hair Regeneration from Adult Stem Cells

ScienceDaily announced a research study led by Professor Takashi Tsuji involving the regeneration of adult stem cells for the purpose of recreating hair. This discovery allows significant advances in the development of organ replacement regenerative therapy. The purpose of organ replacement regenerative therapy is to enable the replacement of damaged organs.

The bioengineered hair follicle research study demonstrated impressive reconstructive results. The hair follicles displayed restored hair cycles and developmentally correct structures, which formed proper connections with the epidermis and other surrounding host tissues.

This study is interesting and important because it shows the possibilities of stem cell research. With stem cell research scientists can make the paralyzed walk. Stem cell research can create thousands of possibilities and improve the health of millions, if not billions of people.

New Study Looks into Genetic Explanation for Heterosis in Corn

 



For over a hundred years, farmers used the concept of heterosis to increase crop yields. To take the most advantage of increased productivity, farmers cross two distinct lines of corn to produce a variety that performs much better than either of the two original strains. Much works has been done to study what lineages produce various types of corn, such as field corn and sweet corn. However, for all of the work that has done with corn hybrids, the genetic mechanism that makes this all possible remains a mystery – until now.

According to Science Daily, a research team comprised of individuals from the University of Bonn, Iowa State University, and the Max Plank Institute has proposed a genetic reason as to why heterosis works. Through state-of-the-art genetic sequencing technology, the researchers discovered genetic fingerprints suggesting that hybrid plants have more active genes than purelines. The increase in the amount of active genes allows hybrid plants to be more productive.

Perhaps the most exciting part of the article is its application to the real world. As food prices – especially corn prices – rise higher every day, there would be a great worldwide benefit if the researchers’ work could be used to produce corn crops with higher yields. Not only is corn used for human consumption, but it is also used for animal feed and biofuels as well. The researchers’ findings has the potential to have a major impact in the global economy.

Exercise And The Reproductive Ability in Horses

ScienceDaily introduced a recent study on the impacts of exercise on a mare’s reproductive ability and embryo transfer. The researchers who performed this study divided up the mare horses into groups. The light-horse mares were divided up into three groups which were no exercise, partial-exercise and full-exercise. The mares that had no exercise were the control group. The purpose of this study was to measure the reproductive blood flow as well as the quality and quantity of embryos developed. The results from this study indicated that exercise increased the concentrations of cortisol being produced in mare horses, which can have a significant effect on mare reproduction. The partial-exercised and full-exercised mare horses showed reduced embryo recovery rates in comparison to the no exercise control group.



This study is interesting because it provides the ability to look further into embryo development and transfer. With the use of today’s advancing technology scientists can help to improve the quality of mare embryos.

Nicotine response genetics in the zebrafish

 



Tobacco use is predicted to result in over 1 billion deaths worldwide by the end of the 21^st century. How genetic variation contributes to the observed differential predisposition in the human population to drug dependence is unknown.Tobacco is a carrier for the highly addictive drug nicotine. Once your body gets a taste for nicotine, it can quickly become a life-long addiction, with extremely fatal consequences. Nicotine is the main drug in all forms of tobacco. Nicotine acts as both a stimulant and a sedative. It is one of the most heavily used addictive drugs in the U.S. The zebrafish is an emerging vertebrate model system for understanding the genetics of behavior. They developed a nicotine behavioral assay in zebrafish and applied it in a forward genetic screen using gene-breaking transposon mutagenesis. We show this insertional method generates mutant alleles that are reversible through Cre-mediated recombination, representing a conditional mutation system for the zebrafish. The combination of this reporter-tagged insertional mutagen approach and zebrafish provides a powerful platform for a rich array of questions amenable to genetic-based scientific inquiry, including the basis of behavior, epigenetics, plasticity, stress, memory, and learning. Looking at the figures below, the zebra fish were quite changed by the nicotine. 

Genetic Counseling and Current Issues

Genetic counselling entails analyzing family medical histories to assess the chance of inherited disease; explaining, coordinating and interpreting genetic tests; providing information about the condition's features, treatment and inheritance; helping people make decisions about reproductive and treatment options and guiding and supporting them as they deal with the impact of the condition or risk on their life. Genetic counselors are allied health professionals who have graduate education in medical genetics and the psycho-social and ethical aspects of genetic disease, as well as specialized training in counselling. This program is found in 17 countries and also four continents. Genetic counselors work not only in a variety of clinical settings, but also in public health and policy; diagnostic laboratories; research; biotech, pharmaceutical and Internet companies. Any person who may have a genetic condition, has a family history of an inherited disease, or has



other risk factors for a genetic condition or birth defect may benefit from seeing a genetic counselor. If a person's family history indicates the possibility of an inherited disease, their doctor may give them a referral. Some pregnant women may also be referred to genetic counselors to receive counseling about the risks of birth defects or for help in interpreting test results. One of the main issues dealing with genetic counseling is the most debatable subject of abortions. Now the genes of a new born can be found easier then ever before. The fact of finding out the probability of many dieses and other heath factors that the newborn may have gives the mother the reason to do multiple specific tests. Which then the mother now knows the problems and the probability of diese in the child and if she wants an abortion to prevent this. Many genetic services as those relating to genetic testing and counseling, will be with helping more individuals deal with medical information that affects their health directly, as opposed to affecting primarily the health of their offspring.

Deletion of One Gene Causes Sex Reversal

Researchers from the Institute of Molecular Biology (IMB) in Mainz have discovered a gene that initiates the development of male sex organs. The researchers' finding uncovers a signaling device, which acts early in development to determine the gonads in males. This discovery sheds light on the genetic network that controls how embryos develop as males or females.

 

When testing on mice the researhers found that the deletion of one gene, Gadd45g, made the male's external genitalia match that of females. Then when they looked at the internal reproductive organs the male's also looked identical to the females. So the deletion of this one gene, Gadd45g, caused a complete sex reversal in the male mice. Christof Niehrs, Director Professor at IMB, said, "when breeding Gadd45g mutant mice we were puzzled why we got only females, until we discovered that some of these females actually carry a Y-chromosome." The scientist furthered showed that the Gadd45g gene controls the Sry gene by signaling it to work or not. The Sry gene is the know master regualtor of male sex expression. They think the Gadd45g gene regulates Sry by binding to p38, a key signaling protien, and activating the transcription factor Gata4. Once active, this factor binds to the Sry gene and ultimately turns it on. "This study both identifies a new role for Gadd45g and suggests a novel signaling pathway that could have important implications for research into disorders of sexual development."-Medical News Today.

I think this article is interesting because it shows how perfect DNA copying has to be, becuase the deletion of just one gene could have a huge effect. It makes me wonder if the scientist's discovery could be applied to human sex determination though. I do think it's cool that their discovery also shows how narrow the timeframe is in an embryo for sex organs to develop correctly.

Nerve Regeneration

An article on Sci-news.com states that the gene required for nerve regeneration has been identified. Researchers at Penn State University, led by Professor Melissa Rolls, have found that axons regrow themselves when cut or damaged and that the process by which the axons repair themselves is completely shut down a certain mutation is present within the gene.

The team began by looking at microtubule-remodeling proteins. Microtubules are structural components of cells that allow basic building blocks to be transported. It has been previously suggested that these microtubules might need to be rebuilt in order to repair the axons, hence why the team began by investigating the role of those remodeling proteins in axon regrowth. From these proteins, the team focused on a cut that sever the microtubules into small pieces. From this set, they identified a protein called spastin.

The disease gene that makes the spastin protein is called SPG4. According to Professor Rolls, "When one copy of this gene is disrupted, affected individuals develop hereditary spastic paraplegia (HSP), which is characterized by progressive lower-limb weakness and spasticity as the long-motor axons in the spinal cord degenerate. Thus, identifying a new neuronal function for spastin may help us to understand this disease."

The gene used the fruit fly to study the spastin gene. The results showed that in the flies with one or two mutant copies of the gene (as opposed to having two normal copies) had no regrowth within cut axons. Not only this, but the team also discovered that the spastin gene has no role in the development of axons that were being assembled for the first time. Furthermore, they found that the dendrites were unaffected and continued to repair themselves even if the axon itself was not repaired. The researchers are continuing to do studies to see if other disease genes also play a role in nerve cell regeneration.

This discovery has opened up a huge amount of possibilities in humans. Since the experiment was performed on fruit flies, it is not known if this same thing happens in humans. However, I am sure that new studies will be performed to see if we can control the way axons are repaired. This is great news for anyone who has had nerve cell damage because we may be able to find a way to stimulate regrowth and help those who suffer.

Increased Understanding Of Genetic Risk Factor For Type 1 Diabetes

Diabetes is one of the most common diseases worldwide, and it is estimated that about 346 million people suffer from this disease. Diabetes is a condition in which the pancreas no longer produces enough insulin or cells stop responding to the insulin that is produced, so that glucose in the blood cannot be absorbed into the cells of the body. Symptoms include frequent urination, lethargy, excessive thirst, and hunger. The treatment includes changes in diet, oral medications, and in some cases, daily injections of insulin. There are two types of diebetes, diabetes I can be genetically passed on, while diabetes 2 is mostly accumulated through obesity. Scientists in Joslin Diabetes Center are trying to find some more answers to understanding  the genetic risk factor for type I diabetes. Joslin scientists in the Section of Immunobiology seek to understand how genes that are most widely associated with various autoimmune diseases contribute to disease risk. One of these genes is PTPN22, which plays a role in lymphocyte (immune cell) function. A PTPN22 variant (or mutation) has been implicated as a risk factor for type 1 diabetes and several other autoimmune disorders. PTPN22 is involved in the formation of a key protein known as lymphoid tyrosine phosphatase (LYP), which helps control the activity of T and B cells in the immune system. The PTPN22 mutation generates a variation of LYP with a different molecular structure. They wanted to try anther model, which they decided to mimic diabetes in a mouse and it was sucessful. There is still more research being done, and as we speak the mystery of diabetes may no longer be a mystery.