Evidence map›Paper›PMID 31192304›Full record

ArticleNeurology. Genetics2019

Hybrid gel electrophoresis using skin fibroblasts to aid in diagnosing mitochondrial disease.

Christopher Newell, Aneal Khan, David Sinasac, John Shoffner, Marisa W Friederich, Johan L K Van Hove, Stacey Hume, Jane Shearer, Iveta Sosova

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology. Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.3field-weighted citation impact, top 41% 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.

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

3 citing papers in PubMed, 5 citations in OpenAlex.

  1. Review
  2. Recent advances in mitochondrial diseases: From molecular insights to therapeutic perspectives.Saudi pharmaceutical journal : SPJ : the official publication of the Saudi Pharmaceutical Society · 2022
    Review
  3. 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

9 authors at 2 institutions in 1 country.

Christopher NewellDepartment of Medical Genetics (C.N., A.K., D.S.) and Department of Pediatrics (A.K.), Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada; Atlanta (J. Shoffner), GA; Departments of Pediatrics (M.W.F., J.L.K.V.H.), Section of Clinical Genetics and Metabolism, University of Colorado; Department of Medical Genetics (S.H.), University of Alberta, Canada; Faculty of Kinesiology (J. Shearer), University of Calgary, Alberta, Canada; and Departments of Laboratory Medicine and Pathology (I.S.), University of Alberta, Edmonton, Canada.
Aneal KhanDepartment of Medical Genetics (C.N., A.K., D.S.) and Department of Pediatrics (A.K.), Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada; Atlanta (J. Shoffner), GA; Departments of Pediatrics (M.W.F., J.L.K.V.H.), Section of Clinical Genetics and Metabolism, University of Colorado; Department of Medical Genetics (S.H.), University of Alberta, Canada; Faculty of Kinesiology (J. Shearer), University of Calgary, Alberta, Canada; and Departments of Laboratory Medicine and Pathology (I.S.), University of Alberta, Edmonton, Canada.
David SinasacDepartment of Medical Genetics (C.N., A.K., D.S.) and Department of Pediatrics (A.K.), Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada; Atlanta (J. Shoffner), GA; Departments of Pediatrics (M.W.F., J.L.K.V.H.), Section of Clinical Genetics and Metabolism, University of Colorado; Department of Medical Genetics (S.H.), University of Alberta, Canada; Faculty of Kinesiology (J. Shearer), University of Calgary, Alberta, Canada; and Departments of Laboratory Medicine and Pathology (I.S.), University of Alberta, Edmonton, Canada.
John ShoffnerDepartment of Medical Genetics (C.N., A.K., D.S.) and Department of Pediatrics (A.K.), Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada; Atlanta (J. Shoffner), GA; Departments of Pediatrics (M.W.F., J.L.K.V.H.), Section of Clinical Genetics and Metabolism, University of Colorado; Department of Medical Genetics (S.H.), University of Alberta, Canada; Faculty of Kinesiology (J. Shearer), University of Calgary, Alberta, Canada; and Departments of Laboratory Medicine and Pathology (I.S.), University of Alberta, Edmonton, Canada.
Marisa W FriederichDepartment of Medical Genetics (C.N., A.K., D.S.) and Department of Pediatrics (A.K.), Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada; Atlanta (J. Shoffner), GA; Departments of Pediatrics (M.W.F., J.L.K.V.H.), Section of Clinical Genetics and Metabolism, University of Colorado; Department of Medical Genetics (S.H.), University of Alberta, Canada; Faculty of Kinesiology (J. Shearer), University of Calgary, Alberta, Canada; and Departments of Laboratory Medicine and Pathology (I.S.), University of Alberta, Edmonton, Canada.
Johan L K Van HoveDepartment of Medical Genetics (C.N., A.K., D.S.) and Department of Pediatrics (A.K.), Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada; Atlanta (J. Shoffner), GA; Departments of Pediatrics (M.W.F., J.L.K.V.H.), Section of Clinical Genetics and Metabolism, University of Colorado; Department of Medical Genetics (S.H.), University of Alberta, Canada; Faculty of Kinesiology (J. Shearer), University of Calgary, Alberta, Canada; and Departments of Laboratory Medicine and Pathology (I.S.), University of Alberta, Edmonton, Canada.
Stacey HumeDepartment of Medical Genetics (C.N., A.K., D.S.) and Department of Pediatrics (A.K.), Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada; Atlanta (J. Shoffner), GA; Departments of Pediatrics (M.W.F., J.L.K.V.H.), Section of Clinical Genetics and Metabolism, University of Colorado; Department of Medical Genetics (S.H.), University of Alberta, Canada; Faculty of Kinesiology (J. Shearer), University of Calgary, Alberta, Canada; and Departments of Laboratory Medicine and Pathology (I.S.), University of Alberta, Edmonton, Canada.
Jane ShearerDepartment of Medical Genetics (C.N., A.K., D.S.) and Department of Pediatrics (A.K.), Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada; Atlanta (J. Shoffner), GA; Departments of Pediatrics (M.W.F., J.L.K.V.H.), Section of Clinical Genetics and Metabolism, University of Colorado; Department of Medical Genetics (S.H.), University of Alberta, Canada; Faculty of Kinesiology (J. Shearer), University of Calgary, Alberta, Canada; and Departments of Laboratory Medicine and Pathology (I.S.), University of Alberta, Edmonton, Canada.
Iveta SosovaDepartment of Medical Genetics (C.N., A.K., D.S.) and Department of Pediatrics (A.K.), Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada; Atlanta (J. Shoffner), GA; Departments of Pediatrics (M.W.F., J.L.K.V.H.), Section of Clinical Genetics and Metabolism, University of Colorado; Department of Medical Genetics (S.H.), University of Alberta, Canada; Faculty of Kinesiology (J. Shearer), University of Calgary, Alberta, Canada; and Departments of Laboratory Medicine and Pathology (I.S.), University of Alberta, Edmonton, Canada.
University of Calgary · CAUniversity of Alberta · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveWe developed a novel, hybrid method combining both blue-native (BN-PAGE) and clear-native (CN-PAGE) polyacrylamide gel electrophoresis, termed BCN-PAGE, to perform in-gel activity stains on the mitochondrial electron transport chain (ETC) complexes in skin fibroblasts.

methodsFour patients aged 46-65 years were seen in the Metabolic Clinic at Alberta Children's Hospital and investigated for mitochondrial disease and had BN-PAGE or CN-PAGE on skeletal muscle that showed incomplete assembly of complex V (CV) in each patient. Long-range PCR performed on muscle-extracted DNA identified 4 unique mitochondrial DNA (mtDNA) deletions spanning the

resultsIn all 4 cases, BCN-PAGE in skin fibroblasts confirmed the abnormal CV activity found from muscle biopsy, suggesting that the mtDNA deletions involving

conclusionsThe BCN-PAGE method in skin fibroblasts has a potential to be a less-invasive tool compared with muscle biopsy to screen patients for abnormalities in CV and other mitochondrial ETC complexes.

Identifiers

PMID31192304
PMCPMC6515941
OpenAlexW2943570569

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

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.