A Novel MTTK Gene Variant m.8315A>C as a Cause of MERRF Syndrome
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F22%3A10445742" target="_blank" >RIV/00064165:_____/22:10445742 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11110/22:10445742
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=U_X1rh1mP0" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=U_X1rh1mP0</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.3390/genes13071245" target="_blank" >10.3390/genes13071245</a>
Alternative languages
Result language
angličtina
Original language name
A Novel MTTK Gene Variant m.8315A>C as a Cause of MERRF Syndrome
Original language description
In this study, we report on a novel heteroplasmic pathogenic variant in mitochondrial DNA (mtDNA). The studied patient had myoclonus, epilepsy, muscle weakness, and hearing impairment and harbored a heteroplasmic m.8315A>C variant in the MTTK gene with a mutation load ranging from 71% to >96% in tested tissues. In muscle mitochondria, markedly decreased activities of respiratory chain complex I + III and complex IV were observed together with mildly reduced amounts of complex I and complex V (with the detection of V*- and free F1-subcomplexes) and a diminished level of complex IV holoenzyme. This pattern was previously seen in other MTTK pathogenic variants. The novel variant was not present in internal and publicly available control databases. Our report further expands the spectrum of MTTK variants associated with mitochondrial encephalopathies in adults.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
—
OECD FORD branch
30101 - Human genetics
Result continuities
Project
<a href="/en/project/NV17-30965A" target="_blank" >NV17-30965A: Mitochondrial disorders with instability of mitochondrial DNA</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2022
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Genes
ISSN
2073-4425
e-ISSN
2073-4425
Volume of the periodical
13
Issue of the periodical within the volume
7
Country of publishing house
CH - SWITZERLAND
Number of pages
6
Pages from-to
1245
UT code for WoS article
000833235900001
EID of the result in the Scopus database
2-s2.0-85136261967