Chromosome Parade #4: Huntington Disease
The chromosome parade moves along today to chromosome 4 and the huntingtin gene (HD gene) for Huntington disease on 4p16.3. Huntington disease is a “progressive brain disorder that causes uncontrolled movements, mental and emotional problems, and loss of thinking ability (cognition).”
The inherited mutation in the HD gene that causes Huntington disease abnormally repeats the CAG segment from 36 to more than 120 times.
People with 36 to 40 CAG repeats may or may not develop the signs and symptoms of Huntington disease during their lifetime, while people with more than 40 repeats almost always develop the disorder during a normal lifetime.
Technorati Tags: hd gene, huntingtin, huntington disease, diseases, illness, health, genetics, genes, dna, chromosomes
Have you read the recent news about the discovery of a link between abnormal cholesterol and HD — a cause? a mechanism of action? certainly, a new direction. I blogged about it over at DNA Direct Talk and will be following this with excitement.