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De Novo Development of mtDNA Deletion Due to Decreased POLG and SSBP1 Expression in Humans

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Abstract
Defects in the mitochondrial genome (mitochondrial DNA (mtDNA)) are associated with both congenital and acquired disorders in humans. Nuclear-encoded DNA polymerase subunit gamma (POLG) plays an important role in mtDNA replication, and proofreading and mutations in POLG have been linked with increased mtDNA deletions. SSBP1 is also a crucial gene for mtDNA replication. Here, we describe a patient diagnosed with Pearson syndrome with large mtDNA deletions that were not detected in the somatic cells of the mother. Exome sequencing was used to evaluate the nuclear factors associated with the patient and his family, which revealed a paternal POLG mutation (c.868C > T) and a maternal SSBP1 mutation (c.320G > A). The patient showed lower POLG and SSBP1 expression than his healthy brothers and the general population of a similar age. Notably, c.868C in the wild-type allele was highly methylated in the patient compared to the same site in both his healthy brothers. These results suggest that the co- deficient expression of POLG and SSBP1 genes could contribute to the development of mtDNA deletion.
Author(s)
강은주김종재김태호서고훈송성준이미주이범희이연미이창환최인희Mustafa Zafer Karagozlu
Issued Date
2021
Type
Article
Keyword
humanmtDNA deletionPearson syndromePOLGSSBP1
DOI
10.3390/genes12020284
URI
https://oak.ulsan.ac.kr/handle/2021.oak/7848
https://ulsan-primo.hosted.exlibrisgroup.com/primo-explore/fulldisplay?docid=TN_cdi_doaj_primary_oai_doaj_org_article_141ef4a005fb4f0195851e1f83a18a5e&context=PC&vid=ULSAN&lang=ko_KR&search_scope=default_scope&adaptor=primo_central_multiple_fe&tab=default_tab&query=any,contains,De%20Novo%20Development%20of%20mtDNA%20Deletion%20Due%20to%20Decreased%20POLG%20and%20SSBP1%20Expression%20in%20Human&offset=0&pcAvailability=true
Publisher
Genes
Location
스위스
Language
영어
ISSN
2073-4425
Citation Volume
12
Citation Number
2
Citation Start Page
284
Citation End Page
284
Appears in Collections:
Medicine > Medicine
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