Evidence map›Paper›PMID 41679577›Full record

ArticleMitochondrion2026

Short telomeres in mitochondrial DNA depletion disorders.

Yumi Dille, Emmanouil Rampakakis, Geraldine Aubert, Christelle Dassi, William Mannherz, Saoussen Berrahmoune, Myriam Srour, Daniela Buhas, Suneet Agarwal, Kenneth A Myers

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Mitochondrion, 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.

Yumi DilleDivision of Neurology, Department of Pediatrics, Montreal Children's Hospital, McGill University Health Centre, 1001 Décarie Boulevard, Montreal, Quebec, Canada.
Emmanouil RampakakisMedical Affairs, JSS Medical Research, Montreal, Québec, Canada; Department of Pediatrics, Montreal Children's Hospital, McGill University, Montreal, Quebec, Canada.
Geraldine AubertRepeat Diagnostics Inc., North Vancouver, British Columbia, Canada; Terry Fox Laboratory, BC Cancer Research Centre, Vancouver, British Columbia, Canada.
Christelle DassiChild Health & Human Development Program, Research Institute of the McGill University Health Centre, 2155 Guy Street, Suite 500, Montreal, Quebec, Canada.
William MannherzHarvard/MIT MD-PhD Program, Harvard Medical School, Boston, MA, USA.
Saoussen BerrahmouneChild Health & Human Development Program, Research Institute of the McGill University Health Centre, 2155 Guy Street, Suite 500, Montreal, Quebec, Canada.
Myriam SrourDivision of Neurology, Department of Pediatrics, Montreal Children's Hospital, McGill University Health Centre, 1001 Décarie Boulevard, Montreal, Quebec, Canada; Child Health & Human Development Program, Research Institute of the McGill University Health Centre, 2155 Guy Street, Suite 500, Montreal, Quebec, Canada; Department of Neurology and Neurosurgery, Montreal Children's Hospital, McGill University Health Centre, 1001 Décarie Boulevard, Montreal, Quebec, Canada.
Daniela BuhasDivision of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre, 1001 Décarie Boulevard, Montreal, Quebec, Canada; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.
Suneet AgarwalDivision of Hematology/Oncology and Stem Cell Program, Boston Children's Hospital, Pediatric Oncology, Dana-Farber Cancer Institute, Department of Pediatrics, Harvard Medical School, Boston, MA, USA. Electronic address: suneet.agarwal@childrens.harvard.edu.
Kenneth A MyersDivision of Neurology, Department of Pediatrics, Montreal Children's Hospital, McGill University Health Centre, 1001 Décarie Boulevard, Montreal, Quebec, Canada; Child Health & Human Development Program, Research Institute of the McGill University Health Centre, 2155 Guy Street, Suite 500, Montreal, Quebec, Canada; Department of Neurology and Neurosurgery, Montreal Children's Hospital, McGill University Health Centre, 1001 Décarie Boulevard, Montreal, Quebec, Canada. Electronic address: kenneth.myers@mcgill.ca.

Funding

Regulation of the telomerase RNA component in hematopoiesisR01DK107716 · NIDDK · BOSTON CHILDREN'S HOSPITAL · PI SUNEET AGARWAL · 2016 to 2026
$5.0M
Control of Telomere Homeostasis by Nucleotide Metabolism in HematopoiesisF30DK135340 · NIDDK · HARVARD MEDICAL SCHOOL · PI William Mannherz · 2023 to 2026
$188k
NIDDK NIH HHS F30 DK135340NIDDK NIH HHS R01 DK107716
6 · The paper itself

Abstract

Mitochondrial DNA (mtDNA) depletion disorders (MDDs) are rare, genetically diverse conditions marked by a significant reduction in mtDNA, primarily affecting energy-demanding tissues such as muscle, liver, and brain, sometimes leading to catastrophic multisystem failure. In a cohort of patients with MDDs, we measured telomere length in lymphocytes, granulocytes, T cells, and B cells, and compared to healthy controls. Telomere length was shorter overall in patients with MDDs, with the most significant differences observed in granulocytes. The observation that mtDNA depletion is associated with shorter telomeres may provide insight into MDD pathophysiology. Telomere length may have potential as a biomarker in mitochondrial disease, but further study is needed.

Indexed as

DNA, MitochondrialMitochondrial DiseasesTelomereTelomere ShorteningFemaleHumansMaleDNA, MitochondrialC10orf2DGUOKMitochondrial DNA depletion disordersPOLGRRM2BSUCLA2SUCLG1Telomere lengthTelomeresTK2TYMP

Identifiers

PMID41679577
PMCPMC13589681

What OpenQuestion holds

Textmetadata
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.