ATP synthase deficiency

Definition:

ATP synthase deficiency is mitochondrial disease caused by inborn defects in the mitochondrial F1Fo-ATP synthase (respiratory chain complex V). Many patients die within a few months or years. It has been shown to result from mutations in mtDNA genes for the subunits ATP6 and ATP8 or in nuclear genes encoding the biogenesis factors ATPAF2 and TMEM70. Recently, mutations have been found in a nuclear encoded structural complex V subunit, ATP5E and ATP5A1.

References:

[1]. Alena Cízková, et al. TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. Nat Genet. 2008 Nov;40(11):1288-90. [Content Brief]

[2]. An I Jonckheere, et al. A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy. Brain. 2013 May;136(Pt 5):1544-54. [Content Brief]

[3]. D Thyagarajan, et al. A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis. Ann Neurol. 1995 Sep;38(3):468-72. [Content Brief]

[4]. Emanuele Barca, et al. USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis. Hum Mol Genet. 2018 Oct 1;27(19):3305-3312. [Content Brief]

[5]. Johannes A Mayr, et al. Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit. Hum Mol Genet. 2010 Sep 1;19(17):3430-9. [Content Brief]

[6]. L De Meirleir, et al. Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12. J Med Genet. 2004 Feb;41(2):120-4. [Content Brief]

[7]. Monika Oláhová, et al. Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. Am J Hum Genet. 2018 Mar 1;102(3):494-504. [Content Brief]

[8]. S M Ware, et al. Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes. J Med Genet. 2009 May;46(5):308-14. [Content Brief]

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