Alteration of structure and function of ATP synthase and cytochrome c oxidase by lack of F-o-a and Cox3 subunits caused by mitochondrial DNA 9205delTA mutation

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F67985823%3A_____%2F15%3A00448192" target="_blank" >RIV/67985823:_____/15:00448192 - isvavai.cz</a>

Result on the web

<a href="http://dx.doi.org/10.1042/BJ20141462" target="_blank" >http://dx.doi.org/10.1042/BJ20141462</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1042/BJ20141462" target="_blank" >10.1042/BJ20141462</a>

Result language

angličtina

Original language name

Alteration of structure and function of ATP synthase and cytochrome c oxidase by lack of F-o-a and Cox3 subunits caused by mitochondrial DNA 9205delTA mutation

Original language description

Mutations in the MT-ATP6 gene are frequent causes of severe mitochondrial disorders. To gain more insight into the pathogenic mechanism of mtDNA 9205delTA mutation in MT-ATP6 gene, we prepared cybrids with mutation load ranging between 52 and 99% and investigated changes in the structure and function of ATP synthase and the COX. We found that 9205delTA mutation strongly reduced the levels of both Fo-a and Cox3 proteins. Lack of Fo-a alters the structure but not the content of ATP synthase, which assembles into a labile, similar to 60 kDa smaller, complex retaining ATP hydrolytic activity but which is unable to synthesize ATP. In contrast, lack of Cox3 limits the biosynthesis of COX but does not alter the structure of the enzyme. Consequently, the diminished mitochondrial content of COX and non-functional ATP synthase prevent most mitochondrial ATP production. The biochemical effects caused by the 9205delTA microdeletion displayed a pronounced threshold effect above sililar to 90%mutati

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

EB - Genetics and molecular biology

OECD FORD branch

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Project

Result was created during the realization of more than one project. More information in the Projects tab.

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2015

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Biochemical Journal

ISSN

0264-6021

e-ISSN

—

Volume of the periodical

466

Issue of the periodical within the volume

3

Country of publishing house

GB - UNITED KINGDOM

Number of pages

11

Pages from-to

601-611

UT code for WoS article

000351687000015

EID of the result in the Scopus database

2-s2.0-84928639745