Evidence map›Paper›PMID 42794697›Full record

ReviewInternational journal of molecular sciences2026

Mitochondrial Quality Control in Inherited Mitochondrial Cardiomyopathy: Convergent Pathobiology and a Testable Therapeutic Framework.

Chung-Lin Lee, Chih-Kuang Chuang, Ya-Hui Chang, Huei-Ching Chiu, Yuan-Rong Tu, Yun-Ting Lo, Jun-Yi Wu, Huang-Ying Huang, Hsiang-Yu Lin, Shuan-Pei Lin

Abstract readReview
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In one paragraph

Review in International journal of molecular sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

10 authors.

Chung-Lin LeeDepartment of Pediatrics, MacKay Memorial Hospital, Taipei 104217, Taiwan.ORCID 0000-0001-8178-6938
Chih-Kuang ChuangDivision of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei 104217, Taiwan.ORCID 0000-0001-9776-2092
Ya-Hui ChangDepartment of Pediatrics, MacKay Memorial Hospital, Taipei 104217, Taiwan.
Huei-Ching ChiuDepartment of Pediatrics, MacKay Memorial Hospital, Taipei 104217, Taiwan.
Yuan-Rong TuDivision of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei 104217, Taiwan.
Yun-Ting LoInternational Rare Disease Centre, MacKay Memorial Hospital, Taipei 104217, Taiwan.
Jun-Yi WuInternational Rare Disease Centre, MacKay Memorial Hospital, Taipei 104217, Taiwan.
Huang-Ying HuangDepartment of Nursing, MacKay Memorial Hospital, Taipei 104217, Taiwan.
Hsiang-Yu LinDepartment of Pediatrics, MacKay Memorial Hospital, Taipei 104217, Taiwan.
Shuan-Pei LinDepartment of Pediatrics, MacKay Memorial Hospital, Taipei 104217, Taiwan.

Funding

MacKay Memorial Hospital MMH-E-112-13, MMH-MM-112-14, MMH-E-113-13, MMH-MM-113-13, MMH-E-114-13, and MMH-E-115-13National Science and Technology Council NSTC-112-2314-B-195-003, NSTC-112-2314-B-195-014-MY3, NSTC-112-2811-B-195-001, NSTC-113-2314-B-195-003, NSTC-113-2314-B-195-004, NSTC-113-2314-B-195-021, NSTC-113-2314-B-715-002, NSTC-113-2811-B-195-001, NSTC-114-2314-B-195-001, NSTC-114-2314-B-195-002, N
6 · The paper itself

Abstract

Inherited mitochondrial cardiomyopathies arise from pathogenic variants affecting oxidative phosphorylation, mitochondrial DNA maintenance, cardiolipin remodeling, protein import, cofactor metabolism, and mitochondrial dynamics or proteostasis. These disorders may be cardiac-predominant or part of multisystem disease. Their overlapping cardiac phenotypes suggest convergence on interacting pathways of energetic stress, cristae disruption, calcium imbalance, and redox injury, but do not establish a universal requirement for defective mitophagy. Mitochondrial quality control encompasses protein surveillance, membrane remodeling, dynamics, biogenesis, and organelle disposal; mitophagy is one component. We critically examine the hypothesis that inadequate clearance of damaged mitochondria contributes to progression in a subset of genotypes and disease stages. Disease-specific studies provide support in selected Barth syndrome models, whereas findings in frataxin deficiency vary with model and assay. We distinguish mitochondrial delivery to lysosomes, dynamic turnover measurements, and changes in pathway markers, and identify indirect evidence from acquired heart disease and fatty acid oxidation deficiency. Therapeutic evidence is separated into cellular, animal, and human studies and approved indications. Elamipretide has accelerated approval for muscle-strength improvement in patients with Barth syndrome weighing at least 30 kg; cardiac disease modification remains unconfirmed. Gene replacement has reached early clinical testing, including adeno-associated virus-mediated frataxin gene delivery (AAV-FXN), whereas mitochondrial genome editing and selective mitophagy modulation remain investigational. We propose testable predictions addressing progression, selective rescue, and treatment timing, together with outcomes that would challenge the hypothesis. This framework supports genotype- and stage-specific investigation without assuming that enhanced mitophagy will benefit every mitochondrial cardiomyopathy.

Indexed as

CardiomyopathiesMitochondriaMitochondria, HeartAnimalsBarth SyndromeDNA, MitochondrialHumansMitophagyDNA, MitochondrialBarth syndromecardiolipinelamipretideFriedreich ataxiagene therapymitochondrial cardiomyopathymitochondrial quality controlmitophagyoxidative phosphorylation

Identifiers

PMID42794697

What OpenQuestion holds

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Registered trials

None linked

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.