Huntingtons Disease

1191 words - 5 pages

Intro Sample...

Huntington's Background
Huntington's disease is inherited as an autosomal dominant disease that gives rise to
progressive, elective (localized) neural cell death associated with choreic movements
(uncontrollable movements of the arms, legs, and face) and dementia. It is one of the
more common inherited brain disorders. About 25,000 Americans have it and another
60,000 or so will carry the defective gene and will develop the disorder as they age.
Physical deterioration occurs over a period of 10 to 20 years, usually beginning in a
person's 30's or 40's. The gene is dominant and thus does not skip generations.
Having the gene means a 92 percent chance of getting the disease. The disease is
associated with increases in the... View More »

Body Sample...

There was no statistically significant difference in the
average mtDNA deletion levels between HD patients and controls in the occipital lobe
and the putamen. The increase in mtDNA deletion levels found in HD frontal and
temporal lobes suggests that HD patients have an increase mtDNA somatic mutation rate.
Could the increased rate be from a direct consequence of the expanded trinucleotide
repeat of the HD gene, or is it from an indirect consequence? Whatever the origin of
the deletion, these observations are consistent with the hypothesis: That the
accumulation of somatic mtDNA mutations erodes the energy capacity of the brain,
resulting in the neuronal loss and symptoms when energy output declines below tissue
expression thresholds. (Neurology, October 95)

Researchers have identified a key protein that causes the advancement of Huntington's
after following up on the discovery two years ago of the gene that causes this
disorder. Shortly after the Huntington's gene was identified, researchers found the
protein it produces, a larger than normal molecule they called huntingtin that was
unlike any protein previously identified. The question that they did not know was what
either the healthy huntingtin protein or its aberrant form does in a cell. Recently, a
team from Johns Hopkins University found a second protein called HAP-1, that attaches
to the huntingtin molecule only in the brain. The characteristics of this second
protein has an interesting feature- it binds much more tightly to defective huntingtin
than to the healthy from ...

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