Mitochondrial dysfunction in MED13 variant-associated disease: a case of infantile spasms, cardiomyopathy and hepatomegaly
Here we report a de novo heterozygous MED13 variant (c.2503C>T, p.Pro835Ser) in an infant presenting with infantile spasms, hypertrophic cardiomyopathy and hepatomegaly. Autopsy revealed mitochondrial abnormalities in cardiac and hepatic tissues, with reduced respiratory chain complex activity. This is the first case report linking a MED13 variant to systemic mitochondrial dysfunction, suggesting a novel pathogenic mechanism.
Authors
- Hiroshi Suzuki
- Mari Tada (ORCID: https://orcid.org/0000-0003-1485-0703)
- Hideki Hayashi (ORCID: https://orcid.org/0000-0002-4693-9801)
- Kozue Ito
- Mizuki Harada
- Hiromi Nyuzuki (ORCID: https://orcid.org/0000-0003-1502-0875)
- Takanori Onuki (ORCID: https://orcid.org/0000-0001-7798-2100)
- Toshiki Takenouchi (ORCID: https://orcid.org/0000-0002-7311-4135)
- Hisato Suzuki (ORCID: https://orcid.org/0000-0002-8122-7180)
- Kei Murayama (ORCID: https://orcid.org/0000-0002-3923-8636)
- Go Hasegawa
Institutions
- Okayama University (JP)
- Keio University (JP)
- Juntendo University (JP)
- Saiseikai Niigata Daini Hospital (JP)
- Niigata University Medical and Dental Hospital (JP)
- Numazu City Hospital (JP)
- Niigata University (JP)
Publication Details
- Journal
- Human Genome Variation
- Published
- 2025-10-23
- DOI
- https://doi.org/10.1038/s41439-025-00327-x
- Citations
- 1
- Primary Topic
- ATP Synthase and ATPases Research
- Type
- article
- Field-Weighted Citation Impact
- 0.81
Funders
- Japan Agency for Medical Research and Development
- Japan Society for the Promotion of Science