Genomics

Tau Gene Mutations Sometimes Result in Plaque

Published in Gene Therapy Weekly, June 14th, 1999

The mutations that cause a rare form of inherited parkinsonism may lead to amyloid plaque deposits such as those seen in Alzheimer's disease (AD).

The Tau protein normally aids in assembling and stabilizing microtubules. But mutations in chromosome 17 cause Tau aggregates to form abnormal filamentous structures that include neurofibrillary tangles (NFT). This leads to the inheritable disease known as frontotemporal dementia with parkinsonism, chromosome 17 type (FTDP-17).

A study of an unusual family with FTDP-17 suggests that tau gene mutations can lead to deposition of A(beta) plaques indistinguishable from those seen in AD.

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Source: Gene Therapy Weekly (1999-06-14)

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