Spinal and Bulbar Muscular Atrophy Overview.

Abstract

Spinal and bulbar muscular atrophy is an X-linked neuromuscular disease caused by an expanded repeat in the androgen receptor gene. The mutant protein is toxic to motor neurons and muscle. The toxicity is ligand-dependent and likely involves aberrant interaction of the mutant androgen receptor with other nuclear factors leading to transcriptional dysregulation. Various therapeutic strategies have been effective in transgenic animal models, and the challenge now is to translate these strategies into safe and effective treatment in patients.

• Authors: Kenneth H Fischbeck
• Journal: Journal of molecular neuroscience : MN (J Mol Neurosci) Vol. 58 Issue 3 Pg. 317-20 (Mar 2016) ISSN: 1559-1166 [Electronic] United States
• PMID: 26547319 (Publication Type: Journal Article, Review)

Chemical References

• Receptors, Androgen

Topics

• Bulbo-Spinal Atrophy, X-Linked (genetics, metabolism, physiopathology)
• Humans
• Motor Neurons (metabolism, physiology)
• Receptors, Androgen (genetics, metabolism)