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Am J Hum Genet. 2012 Feb 10;90(2):314-20. doi: 10.1016/j.ajhg.2011.12.005. Epub 2012 Jan 26.

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.

Author information

1
Department of Paediatrics, Paracelsus Medical University Salzburg, Austria.

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.

PMID:
22284826
PMCID:
PMC3276657
DOI:
10.1016/j.ajhg.2011.12.005
[Indexed for MEDLINE]
Free PMC Article

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