Evidence map›Paper›PMID 41130977›Full record

ArticleHuman genome variation2025

Mitochondrial dysfunction in MED13 variant-associated disease: a case of infantile spasms, cardiomyopathy and hepatomegaly.

Mizuki Harada, Takanori Onuki, Hiromi Nyuzuki, Hisato Suzuki, Kozue Ito, Go Hasegawa, Hideki Hayashi, Mari Tada, Toshiki Takenouchi, Kei Murayama and 1 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human genome variation, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors.

Mizuki HaradaDepartment of Pediatrics, Uonuma Kikan Hospital, Niigata, Japan. mizukiharada7302@gmail.com.ORCID http://orcid.org/0009-0003-8427-1448
Takanori OnukiDepartment of Pediatrics, Division of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
Hiromi NyuzukiDepartment of Pediatrics, Division of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.ORCID http://orcid.org/0000-0003-1502-0875
Hisato SuzukiCenter for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
Kozue ItoDepartment of Pathology, Uonuma Kikan Hospital, Niigata, Japan.
Go HasegawaDepartment of Pathology, Uonuma Kikan Hospital, Niigata, Japan.
Hideki HayashiDepartment of Pathology, Brain Research Institute, Niigata University, Niigata, Japan.
Mari TadaDepartment of Pathology, Brain Research Institute, Niigata University, Niigata, Japan.
Toshiki TakenouchiDepartment of Pediatric Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan.
Kei MurayamaDepartment of Pediatrics, and Diagnostics and Therapeutic of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan.ORCID http://orcid.org/0000-0002-3923-8636
Hiroshi SuzukiDepartment of Pediatrics, Uonuma Kikan Hospital, Niigata, Japan.

Funding

Japan Agency for Medical Research and Development (AMED) JP22ek0109468, 24ek0109625Japan Agency for Medical Research and Development (AMED) JP25gn0110083MEXT | Japan Society for the Promotion of Science (JSPS) JP22K19494
6 · The paper itself

Abstract

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.

Identifiers

PMID41130977
PMCPMC12549833

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.