A patient with Lesch-Nyhan Disease
A gene mutation that causes Lesch-Nyhan
Disease can help scientists learn more about neurological disorders such as Alzheimer’s,
Hutchinson’s, and Parkinson’s disease. The gene involved is hypoxanthine
guanine phosporibosyltransferace, or HPRT1. The gene has key “housekeeping
duties,” such as aiding in the generation of purine nucleotides. Lesch-Nyhan
Disease, first described by Michael Lesch and William Nyhan in 1964, is specifically
caused by a mutation of HPRT, which causes the HPRT enzyme deficiencies that
causes dopamine expression to be defective and thus causes neuron function
abnormalities. Symptoms of the inherited neurodevelopmental disorder include
cognitive defects, compulsive self-mutilation, and body movements that are
repetitive and uncontrollable.
The research, conducted by a team lead by Theodore Friedmann, demonstrates how
errors in gene expression cause impairment in neuron production by stem cells,
thus causing neurological disorders. The research involved mouse embryonic stem
cells that were made HPRT-deficient. These cells differentiated into cells that
only function partially as neurons, functioning more like glial cells. Further,
irregular regulation of cellular functions that control DNA replication and
repair, metabolic processes, and reproduction and operational mechanisms results
from HPRT deficiency.
The
combination of metabolic errors is believed to cause the “neural aberrations”
that result from HPRT deficiency. As these aberrations are found in
neurological disorders such as Parkinson’s disease and Alzheimer’s disease, it
is believed that they may play a part in causing the neuron abnormalities of
these diseases. Thus, these neural aberrations can serve as targets for
treatment of such diseases.
Other studies are revealing significant possibilities of contributors of neurological
diseases. One such study was conducted by the Translational Genomics Research
Institute (TGen) and states that the absence of the protein SMG1 might be a
contributor to Parkinson’s disease and other such neurological disorders. The
study revealed a dramatic decrease in the expression of SMG1 protein in those
with Parkinson’s disease. The absence of SMG1 may contribute to the aggregation
of the protein alpha-synuclein. If the phosphates and kinases that regulate the
aggregation are identified, drugs can be created to prevent the toxicity and
dysfunction of synuclein in those with synucleinopathies (neurodegenerative
disorders that involve alpha-synuclein protein aggregates), such as Parkinson’s
disease.
As
someone with a loved one with Parkinson’s disease, I find studies that can lead
to a better understanding, improved treatment, and possibly a cure for
neurological diseases as extremely significant. A greater understanding of this
gene mutation will help scientists understand other diseases that affect many
people and that have many unknowns. Those who suffer from neurological
disorders can be given hope through such findings! These studies are valuable
and should continue to be carried out in order to increase our understanding of
some of the most mysterious diseases.
Primary Article: http://www.sciencedaily.com/releases/2013/10/131009201053.htm
Secondary Article: http://www.sciencedaily.com/releases/2013/10/131030185940.htm
Picture Source: http://www.acpoc.org/library/popup.aspxmlpage=1987_01_004&type=image&id=f5
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