Negative correlation between organ heteroplasmy, particularly hepatic heteroplasmy, and age at death revealed by post-mortem studies of m.3243A & gt; G cases
Mol Genet Metab. 2023 Aug 28;140(3):107691. doi: 10.1016/j.ymgme.2023.107691. Online ahead of print.ABSTRACTMitochondrial 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 subjects. Clinical characteristics of subjects were as follows: male, 13; female, 28; unknown, 2; the age at death, 36.9 ± 20.2 [4-82] years; BMI, 16.0 ± 2.9 [13.0-22.3]; diabetes, N = 21 (49%), diabetes onset age 38.6 ± 14.2 years; deafness, N = 27 (63%); stroke-like episodes (StLEp), N = 25 (58%); congestive heart failure (CHF), N = 15 (35%); CHF onset age, 51.3 ± 14.5 years. Causes of death (N = 32) were as follows: cardiac, N = 13 (41%); infection, N = 8 (25%); StLEp, N = 4 (13%); gastrointestinal, N = 4 (13%); renal, N = 2 (6%); hepatic, N = 1 (2%). High and low heteroplasmies were confirmed in non-regenerative and regenerative organs, respectively. Heteroplasmy of the liver, spleen, leukocytes, and kidney for all subjects was significantly associated with the age at death. Furthermore, the age at death was related to juvenile-onset (any m.3243A > G-related symptoms appeared before 20) and stroke-like episodes. Multiple linear regression analysis ...
Source: Molecular Medicine - Category: Molecular Biology Authors: Kunimasa Yagi Satoko Okazaki Azusa Ohbatake Masako Nakaya Jianhui Liu Eiko Arite Yukiko Miyamoto Naoko Ito Kaoru Nakano Naoto Yamaaki Hisae Honoki Shiho Fujisaka Daisuke Chujo Shin-Ichiro Tsunoda Kunio Yanagimoto Tsuyoshi Nozue Masayo Yamada Kotaro Ooe Ts Source Type: research
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