Evidence map›Paper›PMID 33985528›Full record

ArticleJournal of nanobiotechnology2021

Nanoscopic quantification of sub-mitochondrial morphology, mitophagy and mitochondrial dynamics in living cells derived from patients with mitochondrial diseases.

Weiwei Zou, Qixin Chen, Jesse Slone, Li Yang, Xiaoting Lou, Jiajie Diao, Taosheng Huang

Registry-linked trialOpen access · goldAbstract read
In one paragraph

Article in Journal of nanobiotechnology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04594590 (A Natural History Study of Neurodegeneration and Optic Atrophy Caused by SLC25A46 Mutations in Pediatric and Adult Patients), which is not on this map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
1.3field-weighted citation impact, top 20% of its field
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.

NCT04594590 completednot on this map

A Natural History Study of Neurodegeneration and Optic Atrophy Caused by SLC25A46 Mutations in Pediatric and Adult Patients

Typeobservational_patient_registrySponsorState University of New York at BuffaloRan2020 to 2023Enrolled9ConditionsNeurodegenerative Disease, Hereditary, Mitochondrial Diseases, Optic AtrophyArmsMutation analysis
3 · Its place in the literature

Who cites it

13 citing papers in PubMed, 25 citations in OpenAlex.

  1. Review
  2. Engineered bone-targetingMaterials today. Bio · 2026
    Article
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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

7 authors at 4 institutions in 2 countries.

Weiwei Zou *Division of Human Genetics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH, 45229, USA.
Qixin Chen *Department of Cancer Biology, University of Cincinnati College of Medicine, Cincinnati, OH, 45267, USA.
Jesse SloneDivision of Human Genetics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH, 45229, USA.
Li YangDivision of Human Genetics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH, 45229, USA.
Xiaoting LouDivision of Human Genetics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH, 45229, USA.
Jiajie DiaoDepartment of Cancer Biology, University of Cincinnati College of Medicine, Cincinnati, OH, 45267, USA. jiajie.diao@uc.edu.
Taosheng HuangDivision of Human Genetics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH, 45229, USA. thuang29@buffalo.edu.
Cincinnati Children's Hospital Medical Center · USAnhui Medical University · CNShandong First Medical University · CNUniversity of Cincinnati Medical Center · US

Funding

Exploration of the genetic basis and molecular mechanism for paternal mitochondrial DNA inheritanceR01HD092989 · NICHD · CINCINNATI CHILDRENS HOSP MED CTR · PI HUANG, TAOSHENG · 2018 to 2019
$517k
National Institute of Child Health & Development 1R01HD092989NICHD NIH HHS R01 HD092989
6 · The paper itself

Abstract

SLC25A46 mutations have been found to lead to mitochondrial hyper-fusion and reduced mitochondrial respiratory function, which results in optic atrophy, cerebellar atrophy, and other clinical symptoms of mitochondrial disease. However, it is generally believed that mitochondrial fusion is attributable to increased mitochondrial oxidative phosphorylation (OXPHOS), which is inconsistent with the decreased OXPHOS of highly-fused mitochondria observed in previous studies. In this paper, we have used the live-cell nanoscope to observe and quantify the structure of mitochondrial cristae, and the behavior of mitochondria and lysosomes in patient-derived SLC25A46 mutant fibroblasts. The results show that the cristae have been markedly damaged in the mutant fibroblasts, but there is no corresponding increase in mitophagy. This study suggests that severely damaged mitochondrial cristae might be the predominant cause of reduced OXPHOS in SLC25A46 mutant fibroblasts. This study demonstrates the utility of nanoscope-based imaging for realizing the sub-mitochondrial morphology, mitophagy and mitochondrial dynamics in living cells, which may be particularly valuable for the quick evaluation of pathogenesis of mitochondrial morphological abnormalities.

Indexed as

Cell ProliferationFibroblastsHumansLysosomesMitochondriaMitochondrial DiseasesMitochondrial DynamicsMitochondrial MembranesMitochondrial ProteinsMitophagyMutationPhosphate Transport ProteinsMitochondrial ProteinsPhosphate Transport ProteinsSLC25A46 protein, humanCristaeMitochondrial diseaseMitophagyNanoscopeSLC25A46

Identifiers

PMID33985528
PMCPMC8120746
OpenAlexW3163601455

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

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.