Affordable Access

Publisher Website

Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome

Authors
Journal
The American Journal of Human Genetics
0002-9297
Publisher
Elsevier
Publication Date
Volume
90
Issue
2
Identifiers
DOI: 10.1016/j.ajhg.2011.12.005

Abstract

Exome sequencing of an individual with congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, and lactic acidosis, all typical symptoms of Sengers syndrome, discovered two nonsense mutations in the gene encoding mitochondrial acylglycerol kinase (AGK). Mutation screening of AGK in further individuals with congenital cataracts and cardiomyopathy identified numerous loss-of-function mutations in an additional eight families, confirming the causal nature of AGK deficiency in Sengers syndrome. The loss of AGK led to a decrease of the adenine nucleotide translocator in the inner mitochondrial membrane in muscle, consistent with a role of AGK in driving the assembly of the translocator as a result of its effects on phospholipid metabolism in mitochondria.

There are no comments yet on this publication. Be the first to share your thoughts.