Analysis of Mitochondrial Transfer RNA Mutations in Breast Cancer

Autor:	Ding H.J., Zhao Y.P., Jiang Z.C., Zhou D.T., Zhu R.
Jazyk:	angličtina
Rok vydání:	2022
Předmět:	breast cancer mitochondrial trnas mutations carcinogenesis pathogenic mitochondrial dysfunction Genetics QH426-470
Zdroj:	Balkan Journal of Medical Genetics, Vol 25, Iss 2, Pp 15-22 (2022)
Druh dokumentu:	article
ISSN:	2199-5761
DOI:	10.2478/bjmg-2022-0020
Popis:	Damage of mitochondrial functions caused by mitochondrial DNA (mtDNA) pathogenic mutations had long been proposed to be involved in breast carcinogenesis. However, the detailed pathological mechanism remained deeply undetermined. In this case-control study, we screened the frequencies of mitochondrial tRNA (mt-tRNA) mutations in 80 breast cancer tissues and matched normal adjacent tissues. PCR and Sanger sequence revealed five possible pathogenic mutations: tRNAVal G1606A, tRNAIle A4300G, tRNASer(UCN) T7505C, tRNAGlu A14693G and tRNAThr G15927A. We noticed that these mutations resided at extremely conserved positions of tRNAs and would affect tRNAs transcription or modifications. Furthermore, functional analysis suggested that patients with these mt-tRNA mutations exhibited much lower levels of mtDNA copy number and ATP, as compared with controls (p
Databáze:	Directory of Open Access Journals
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