Variability of Clinical Phenotypes Caused by Isolated Defects of Mitochondrial ATP Synthase.

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F67985823%3A_____%2F24%3A00598040" target="_blank" >RIV/67985823:_____/24:00598040 - isvavai.cz</a>

Výsledek na webu

<a href="https://www.biomed.cas.cz/physiolres/pdf/2024/73_S243.pdf" target="_blank" >https://www.biomed.cas.cz/physiolres/pdf/2024/73_S243.pdf</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.33549/physiolres.935407" target="_blank" >10.33549/physiolres.935407</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Variability of Clinical Phenotypes Caused by Isolated Defects of Mitochondrial ATP Synthase.

Popis výsledku v původním jazyce

Disorders of ATP synthase, the key enzyme in mitochondrial energy supply, belong to the most severe metabolic diseases, manifesting as early-onset mitochondrial encephalocardiomyopathies. Since ATP synthase subunits are encoded by both mitochondrial and nuclear DNA, pathogenic variants can be found in either genome. In addition, the biogenesis of ATP synthase requires several assembly factors, some of which are also hotspots for pathogenic variants. While variants of MT-ATP6 and TMEM70 represent the most common cases of mitochondrial and nuclear DNA mutations respectively, the advent of nextgeneration sequencing has revealed new pathogenic variants in a number of structural genes and TMEM70, sometimes with truly peculiar genetics. Here we present a systematic review of the reported cases and discuss biochemical mechanisms, through which they are affecting ATP synthase. We explore how the knowledge of pathophysiology can improve our understanding of enzyme biogenesis and function.

Název v anglickém jazyce

Variability of Clinical Phenotypes Caused by Isolated Defects of Mitochondrial ATP Synthase.

Popis výsledku anglicky

Disorders of ATP synthase, the key enzyme in mitochondrial energy supply, belong to the most severe metabolic diseases, manifesting as early-onset mitochondrial encephalocardiomyopathies. Since ATP synthase subunits are encoded by both mitochondrial and nuclear DNA, pathogenic variants can be found in either genome. In addition, the biogenesis of ATP synthase requires several assembly factors, some of which are also hotspots for pathogenic variants. While variants of MT-ATP6 and TMEM70 represent the most common cases of mitochondrial and nuclear DNA mutations respectively, the advent of nextgeneration sequencing has revealed new pathogenic variants in a number of structural genes and TMEM70, sometimes with truly peculiar genetics. Here we present a systematic review of the reported cases and discuss biochemical mechanisms, through which they are affecting ATP synthase. We explore how the knowledge of pathophysiology can improve our understanding of enzyme biogenesis and function.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

10608 - Biochemistry and molecular biology

Projekt

Výsledek vznikl pri realizaci vícero projektů. Více informací v záložce Projekty.

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Rok uplatnění

2024

Kód důvěrnosti údajů

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

Název periodika

Physiological Research

ISSN

0862-8408

e-ISSN

1802-9973

Svazek periodika

73

Číslo periodika v rámci svazku

Suppl.1

Stát vydavatele periodika

CZ - Česká republika

Počet stran výsledku

36

Strana od-do

"S243"-"S278"

Kód UT WoS článku

001295308400014

EID výsledku v databázi Scopus

2-s2.0-85202905924