ATP Synthase 8

Alternative Names

  • MTATP8
  • Complex V, ATP Synthase, Subunit ATPase 8
  • ATP8
  • Mitochondrial Complex V (ATP Synthase) Deficiency, Mitochondrial Type 2
  • MC5DM2
  • Brain Pseudoatrophy, Reversible, Valproate-Induced, Susceptibility to
  • Cardiomyopathy, Apical Hypertrophic, and Neuropathy
  • Cardiomyopathy, Infantile Hypertrophic

Description

Mitochondria have their own DNA (mtDNA, which is a 16.5-kb circular double-stranded DNA (dsDNA), encoding 13 polypeptides, 22 transfer RNA (tRNA), and two ribosomal RNA (rRNA).  The 13 polypeptides are subunits of a series of large enzyme complexes located in the inner mitochondrial membrane necessary for ATP production via oxidative phosphorylation.  The protein encoded by the MT-ATP8 gene belongs to the mitochondrial respiratory chain complex.  The MT-ATP8 protein is one subunit of a large enzyme called ATP synthase, also known as complex V.  This enzyme produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain.

Molecular Genetics

The MT-ATP8 gene has one coding exons, and it is located in the mitochondrial DNA base pairs 8,366 to 8,572.  Mutations in the MT-ATP8 gene have been associated with mitochondrial complex V deficiency, mitochondrial 2, and periodic paralysis with later-onset distal motor neuropathy.

Epidemiology in the Arab World

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Other Reports

Saudi Arabia

Abu-Amero et al. (2006) sequenced the entire coding region of mitochondrial DNA for 26 MTC patients and 119 normal population controls.  Of the MTC patients, 13 were sporadic, nine had MEN 2A, one had MEN 2B, and three had FMTC.  In 20 MTC samples, 41 nonsynonymous mutations were detected; nine were from sporadic MTC and 11 were from familial MTC and MEN2.  Also, 15 synonymous mtDNA sequence variants were found in MTC samples, seven of them were novel.  Twenty seven mutations were transversions; 22 nonsynonymous and six synonymous.  These transversion variants were only detected in FMTC/MEN2 while transition variants were mainly found in sporadic MTC cases.  One nonsynonymous C>T transition mutation was found in the MT-ATP8 gene, with a possibility of affecting protein function and structure.  None of the described mutations were present in the normal controls, suggesting that mtDNA mutations may be involved in MTC tumorigenesis and progression.

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