Evidence map›Paper›PMID 39510533›Full record

ArticleLiver international : official journal of the International Association for the Study of the Liver2025

Variants in MICOS10 Identified by Whole Genome Sequencing and RNA Sequencing in a New Type of Hepatocerebral Mitochondrial DNA Depletion Syndrome.

Yoshihito Kishita, Ayumu Sugiura, Nanako Omichi, Masaru Shimura, Yukiko Yatsuka, Kohta Nakamura, Toju Tanaka, Mitsuru Kubota, Kei Murayama, Akira Ohtake and 1 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Liver international : official journal of the International Association for the Study of the Liver, 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.

Yoshihito KishitaDepartment of Life Science, Faculty of Science and Engineering, Kindai University, Osaka, Japan.ORCID 0000-0003-4978-1680
Ayumu SugiuraDiagnostics and Therapeutic of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan.ORCID 0000-0002-4776-1478
Nanako OmichiDepartment of Life Science, Faculty of Science and Engineering, Kindai University, Osaka, Japan.
Masaru ShimuraDepartment of Metabolism, Chiba Children's Hospital, Chiba, Japan.ORCID 0000-0002-1998-7349
Yukiko YatsukaDiagnostics and Therapeutic of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan.ORCID 0000-0003-3137-6919
Kohta NakamuraDiagnostics and Therapeutic of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan.
Toju TanakaDepartment of Pediatrics, National Hospital Organization Hokkaido Medical Center, Sapporo, Japan.
Mitsuru KubotaDepartment of General Pediatrics and Interdisciplinary Medicine, National Center for Child Health and Development, Tokyo, Japan.ORCID 0000-0002-5395-8226
Kei MurayamaDiagnostics and Therapeutic of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan.ORCID 0000-0002-3923-8636
Akira OhtakeDepartment of Pediatrics and Clinical Genomics, Saitama Medical University, Saitama, Japan.ORCID 0000-0003-1147-3113
Yasushi OkazakiDiagnostics and Therapeutic of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan.ORCID 0000-0003-3241-5502

Funding

Japan Agency for Medical Research and DevelopmentJapan Society for the Promotion of ScienceTokyo Biochemical Research Foundation
6 · The paper itself

Abstract

backgroundThe mitochondrial contact site and cristae organising system (MICOS) complex is required for cristae formation and is composed of seven proteins. Among the genes of MICOS complex, variants of MICOS13, IMMT and APOO have been reported to cause diseases. METHODS AND

resultsWe report a case in which whole genome sequencing identified a variant of the MICOS10 gene associated with mitochondrial hepatopathy along with mitochondrial DNA depletion. We identified the deletion g.19596826_19601303del and the single nucleotide variant c.173G>C (p.Cys58Ser). The deletion including exon 1 might have caused complete loss of gene expression, indicating monoallelic expression from RNA sequencing. MIC10 was lost at the protein level in the patient's fibroblasts, and mitochondrial oxygen consumption was impaired. These were restored by overexpression of MICOS10 in the patient's fibroblasts.

conclusionTaken together, these findings indicate that MICOS10 is a causative gene for hepatopathy and neuropathy, a disease very similar to that associated with MICOS13.

Indexed as

DNA, MitochondrialMitochondrial DiseasesWhole Genome SequencingFibroblastsHumansMitochondrial ProteinsSequence Analysis, RNADNA, MitochondrialMitochondrial ProteinshepatopathyMICOS complexmitochondrial DNARNA sequencingwhole genome sequencing

Identifiers

PMID39510533
PMCPMC11669185

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