Adult-onset MELAS syndrome in a 51-year-old woman without typical clinical manifestations: a case report DOI Creative Commons
Sang‐Hyup Lee, Chan Joo Lee

European Heart Journal - Case Reports, Journal Year: 2023, Volume and Issue: 7(8)

Published: Aug. 1, 2023

Language: Английский

The Mitochondrial m.3243A>G Mutation on the Dish, Lessons from In Vitro Models DOI Open Access
Sanna Ryytty,

Riikka H. Hämäläinen

International Journal of Molecular Sciences, Journal Year: 2023, Volume and Issue: 24(17), P. 13478 - 13478

Published: Aug. 30, 2023

The m.3243A>G mutation in the tRNA Leu(UUR) gene (MT-TL1) is one of most common pathogenic point mutations human mtDNA. Patient symptoms vary widely and severity disease ranges from asymptomatic to lethal. reason for high heterogeneity m.3243A>G-associated still unknown, treatment options are limited, with only supportive interventions available. Furthermore, heteroplasmic nature lack specific animal models mtDNA have challenged study m.3243A>G, and, besides patient data, cell been available studies. commonly used derived, such as fibroblasts induced pluripotent stem (iPSC)-derived models, cybrid where mutant DNA transferred an acceptor cell. Studies on revealed cell-type-specific effects that tolerance this varies between types patients. In review, we summarize literature models.

Language: Английский

Citations

3
Experimental Zebrafish Models of Mitochondrial Dysfunction in the Pathogenesis of CNS Diseases DOI

L. V. Yushko,

М. М. Kotova, T. V. V’yunova

et al.

Journal of Evolutionary Biochemistry and Physiology, Journal Year: 2023, Volume and Issue: 59(6), P. 2114 - 2128

Published: Nov. 1, 2023

Language: Английский

Citations

3
Commentary: The mutations and clinical variability in maternally inherited diabetes and deafness: an analysis of 161 patients DOI Creative Commons
Ivo P. van de Peppel, Serwet Demirdas, Behiye Özcan

et al.

Frontiers in Endocrinology, Journal Year: 2023, Volume and Issue: 14

Published: June 7, 2023

GENERAL COMMENTARY article Front. Endocrinol., 07 June 2023Sec. Clinical Diabetes Volume 14 - 2023 | https://doi.org/10.3389/fendo.2023.1205862

Language: Английский

Citations

2
Modeling-based prediction tools for preimplantation genetic testing of mitochondrial DNA diseases: estimating symptomatic thresholds, risk, and chance of success DOI
Dongmei Ji, Ning Zhang, Weiwei Zou

et al.

Journal of Assisted Reproduction and Genetics, Journal Year: 2023, Volume and Issue: 40(9), P. 2185 - 2196

Published: July 13, 2023

Language: Английский

Citations

2
Adult-onset MELAS syndrome in a 51-year-old woman without typical clinical manifestations: a case report DOI Creative Commons
Sang‐Hyup Lee, Chan Joo Lee

European Heart Journal - Case Reports, Journal Year: 2023, Volume and Issue: 7(8)

Published: Aug. 1, 2023

Language: Английский

Citations

1