Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 90, Issue 2, Pages 314-320Publisher
CELL PRESS
DOI: 10.1016/j.ajhg.2011.12.005
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Funding
- Helmholtz Association [HA-215]
- German Federal Ministry of Education and Research (BMBF) [SysMBo 0315494A]
- German Network for Mitochondrial Disorders [mitoNET 01GM0867]
- BMBF
- European Commission [N. 261123]
- Genetic European Variation in Disease Consortium
- German Ministry for Education and Research [01GR0804-4]
- Austrian Paediatric Society (OGKJ)
- Jubilaumsfonds of Oesterreichische Nationalbank [12568]
- Vereinigung zur Forderung padiatrischer Forschung und Fortbildung Salzburg
- Telethon-Italy [GPP10005, GGP1011]
- Fondazione Cariplo [2011-0526]
- Italian Association of Mitochondrial Patients and Families (Mitocon)
- Fondazione Pierfranco e Luisa Mariani-Organizzazione Non Lucrativa di Utilita Sociale
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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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