Polyalanine tract disorders and neurocognitive phenotypes

Cheryl Shoubridge, Jozef Gecz

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

8 Citations (Scopus)

Abstract

Expansion of polyalanine tracts cause at least 9 inherited human diseases. Eight of these nine diseases are due to expansions in transcription factors and give rise to congenital disorders, many with neurocognitive phenotypes. Disease-causing expansions vary in length depending upon the gene in question, with the severity of the associated clinical phenotype generally increasing with length of the polyalanine tract. The past decade has seen considerable progress in the understanding on how these mutations may arise and the functional effect of expanded polyalanine tracts on the resulting protein. Despite this progress, the pathogenic mechanism of expanded polyalanine tracts contributing to the associated disease states remains poorly understood. Gaining insights into the mechanisms that underlie the pathogenesis of different expanded polyalanine tract mutations will be a necessary step on the path to the design of potential treatment strategies for the associated diseases.

Original languageEnglish
Title of host publicationTandem Repeat Polymorphisms
Subtitle of host publicationGenetic Plasticity, Neural Diversity and Disease
PublisherSpringer New York LLC
Pages185-203
Number of pages19
ISBN (Print)9781461454335
DOIs
Publication statusPublished or Issued - 1 Jan 2012
Externally publishedYes

Publication series

NameAdvances in Experimental Medicine and Biology
Volume769
ISSN (Print)0065-2598

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

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