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Cell Press, American Journal of Human Genetics, 2(90), p. 314-320, 2012

DOI: 10.1016/j.ajhg.2011.12.005

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Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.

Journal article published in 2012 by Johannes A. Mayr, Tobias B. Haack, Elisabeth Graf, Franz A. Zimmermann, Thomas Wieland, Birgit Haberberger, Andrea Superti-Furga, Janbernd Kirschner, Beat Steinmann, Matthias R. Baumgartner ORCID, Isabella Moroni, Eleonora Lamantea, Massimo Zeviani, Richard J. T. Rodenburg ORCID, Jan Smeitink and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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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.