Possible involvement of the RNAi pathway in trinucleotide repeat expansion diseases.

Abstract:

:A new molecular mechanism of trinucleotide expansion diseases is suggested. The mechanism involves the formation of double-helical RNA hairpins by transcripts carrying (CNG)(n) sequences, which are processed via the RNAi pathway with subsequent RNA silencing of genes containing (CNG)(n) sequences. Depletion of proteins encoded by these genes leads to the specific disease phenotype. The available data on human myotonic dystrophy 1, which results from the (CTG)(n) expansion, support the hypothesis.

journal_name

J Biomol Struct Dyn

authors

Malinina L

doi

10.1080/07391102.2005.10531230

subject

Has Abstract

pub_date

2005-12-01 00:00:00

pages

233-5

issue

3

eissn

0739-1102

issn

1538-0254

pii

d=3021&c=4189&p=13151&do=detail

journal_volume

23

pub_type

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