Medical Definition of huntingtin

  • Medical Author:
    William C. Shiel Jr., MD, FACP, FACR

    Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.

huntingtin: The name of the gene responsible for Huntington disease (HD) and of the protein encoded by that gene. The molecular basis of HD is an increase in the length of a CAG triplet repeat (or 'polyglutamine') within the huntingtin gene. The gene is on chromosome 4p16.3.

The huntingtin mutation (gene change) is fully dominant; homozygotes (who have two copies of the huntingtin gene) are no more severely affected than heterozygotes (who have only one copy of the gene). It has long been recognized that paternal transmission results in increased severity (the 'rigid' form), earlier onset (anticipation), and more rapid progress than does maternal transmission of the gene.

HD gives rise to progressive, selective (localized) death of neuronal cells (neural cells) associated with choreic (involuntary) movements, gradually decreasing psychomotor skills and dementia (mental deterioration). It is the terrible disease that caused the decline and death of the American folksinger Woody Guthrie (1912-1967) who wrote "Your Land is My Land", "So Long it's Been Good to Know You" and many other memorable songs.

Reviewed on 9/7/2018

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