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Mayr, J.A.* ; Haack, T.B. ; Graf, E. ; Zimmermann, F.A.* ; Wieland, T. ; Haberberger, B. ; Superti-Furga, A.* ; Kirschner, J.* ; Steinmann, B.* ; Baumgartner, M.R.* ; Moroni, I.* ; Lamantea, E.* ; Zeviani, M.* ; Rodenburg, R.J.* ; Smeitink, J.* ; Strom, T.M. ; Meitinger, T. ; Sperl, W.* ; Prokisch, H.

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.

Am. J. Hum. Genet. 90, 314-320 (2012)
DOI PMC
Open Access Green as soon as Postprint is submitted to ZB.
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.
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Publication type Article: Journal article
Document type Scientific Article
Keywords Adenine-nucleotide translocator; ATP synthase deficiency; Lactic-acidosis; Hypertrophic cardiomyopathy; Congenital cataract; 3-methylglutaconic aciduria; Oxidative-phosphorylation; Muscle; Myotparhy; Expression
ISSN (print) / ISBN 0002-9297
e-ISSN 1537-6605
Journal American Journal of Human Genetics, The
Quellenangaben Volume: 90, Issue: 2, Pages: 314-320 Article Number: , Supplement: ,
Publisher Elsevier
Publishing Place New York, NY
Reviewing status Peer reviewed
Institute(s) Institute of Human Genetics (IHG)