Negative correlation between organ heteroplasmy, particularly hepatic heteroplasmy, and age at death revealed by post-mortem studies of m.3243A > G cases.

doi:10.1016/j.ymgme.2023.107691

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Article

Negative correlation between organ heteroplasmy, particularly hepatic heteroplasmy, and age at death revealed by post-mortem studies of m.3243A > G cases.

Molecular genetics and metabolism - 1 Nov 2023

Yagi Kunimasa, Okazaki Satoko, Ohbatake Azusa, Nakaya Masako, Liu Jianhui, Arite Eiko, Miyamoto Yukiko, Ito Naoko, Nakano Kaoru, Yamaaki Naoto, Honoki Hisae, Fujisaka Shiho, Chujo Daisuke, Tsunoda Shin-Ichiro, Yanagimoto Kunio, Nozue Tsuyoshi, Yamada Masayo, Ooe Kotaro, Araki Tsutomu, Nakashima Akikatsu, Azami Yasushi, Sodemoto Yukio, Tadokoro Kenichi, Nagano Makoto, Noguchi Tohru, Nohara Atushi, Origasa Hideki, Niida Yo, Tada Hayato

Abstract excerpt

Mitochondrial DNA m.3243A > G mutation causes mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) and its associated multi-organ disorders, including diabetes. To clarify associations between m.3243A > G organ heteroplasmy and clinical phenotypes, including the age at death, we combined genetic and pathological examinations from seven unreported and 36 literature cases of autopsied...

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PMID: 37660570
DOI: 10.1016/j.ymgme.2023.107691

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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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