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Article

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

Genes - 17 Feb 2021

Lee Yeonmi, Kim Taeho, Lee Miju, So Seongjun, Karagozlu Mustafa Zafer, Seo Go Hun, Choi In Hee, Lee Peter C W, Kim Chong-Jai, Kang Eunju, Lee Beom Hee

Abstract excerpt

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...

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Identifiers

PMID: 33671400
DOI: 10.3390/genes12020284
PMCID: PMC7922481

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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