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Huntington disease

From SNPedia

Huntington disease is a dominant neurodegenerative disorder caused by mutations in the HTT gene. Patients typically begin to develop symptoms between ages 30 and 40. omim

The best described and most common mutation is an expanded (CAG)n triplet repeat of a section of the HTT gene. These triplet repeat expansions are dominant, in that inheriting a single allele with such a repeat predicts the (eventual) development of disease.

The DNA chips commonly used by DTC genomic testing companies do not return results relevant to Huntington disease. Targeted sequencing of the HTT gene, full genomic sequencing, and exome sequencing may or may not return relevant data, depending on the exact nature of the assay.

The CHDI foundation sponsors research in Huntington disease. For more on this condition, see this NIH information page and Wikipedia.

news SIRT1 seems to prevent a decline in levels of BDNF. People with Huntington disease tend to have low levels of BDNF.