Evidence map›Paper›PMID 39533303›Full record

ArticleOrphanet journal of rare diseases2024

Genetic landscape of primary mitochondrial diseases in children and adults using molecular genetics and genomic investigations of mitochondrial and nuclear genome.

Anastasia Ambrose, Shalini Bahl, Saloni Sharma, Dan Zhang, Clara Hung, Shailly Jain-Ghai, Alicia Chan, Saadet Mercimek-Andrews

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Orphanet journal of rare diseases, 2024. 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
–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

3 citing papers in PubMed.

  1. Review
  2. Article
  3. A rareTranslational pediatrics · 2025
    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

8 authors.

Anastasia AmbroseDepartment of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, 8-39 Medical Sciences Building, 8613 114 Street, Edmonton, AB, T6G 2H7, Canada.
Shalini BahlPrincess Margaret Cancer Centre, 101 College Street, Toronto, ON, M5G 1L7, Canada.
Saloni SharmaDepartment of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, 8-39 Medical Sciences Building, 8613 114 Street, Edmonton, AB, T6G 2H7, Canada.
Dan ZhangDepartment of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, 8-39 Medical Sciences Building, 8613 114 Street, Edmonton, AB, T6G 2H7, Canada.
Clara HungDepartment of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, 8-39 Medical Sciences Building, 8613 114 Street, Edmonton, AB, T6G 2H7, Canada.
Shailly Jain-GhaiDepartment of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, 8-39 Medical Sciences Building, 8613 114 Street, Edmonton, AB, T6G 2H7, Canada.
Alicia ChanDepartment of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, 8-39 Medical Sciences Building, 8613 114 Street, Edmonton, AB, T6G 2H7, Canada.
Saadet Mercimek-AndrewsDepartment of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, 8-39 Medical Sciences Building, 8613 114 Street, Edmonton, AB, T6G 2H7, Canada. saadet@ualberta.ca.ORCID 0000-0001-8396-6764

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundPrimary mitochondrial diseases (PMD) are one of the most common metabolic genetic disorders. They are due to pathogenic variants in the mitochondrial genome (mtDNA) or nuclear genome (nDNA) that impair mitochondrial function and/or structure. We hypothesize that there is overlap between PMD and other genetic diseases that are mimicking PMD. For this reason, we performed a retrospective cohort study.

methodsAll individuals with suspected PMD that underwent molecular genetic and genomic investigations were included. Individuals were grouped for comparison: (1) individuals with mtDNA-PMD; (2) individuals with nDNA-PMD; (3) individuals with other genetic diseases mimicking PMD (non-PMD); (4) individuals without a confirmed genetic diagnosis.

results297 individuals fulfilled inclusion criteria. The diagnostic yield of molecular genetics and genomic investigations was 31.3%, including 37% for clinical exome sequencing and 15.8% for mitochondrial genome sequencing. We identified 71 individuals with PMD (mtDNA n = 41, nDNA n = 30) and 22 individuals with non-PMD. Adults had higher percentage of mtDNA-PMD compared to children (p-value = 0.00123). There is a statistically significant phenotypic difference between children and adults with PMD.

conclusionWe report a large cohort of individuals with PMD and the diagnostic yield of urine mitochondrial genome sequencing (16.1%). We think liver phenotype might be progressive and should be studied further in PMD. We showed a relationship between non-PMD genes and their indirect effects on mitochondrial machinery. Differentiation of PMD from non-PMD can be achieved using specific phenotypes as there was a statistically significant difference for muscular, cardiac, and ophthalmologic phenotypes, seizures, hearing loss, peripheral neuropathy in PMD group compared to non-PMD group.

Indexed as

DNA, MitochondrialMitochondrial DiseasesAdolescentAdultAgedChildChild, PreschoolFemaleGenome, MitochondrialGenomicsHumansInfantMaleMiddle AgedRetrospective StudiesYoung AdultDNA, MitochondrialExome sequencingMitochondrial genome sequencingPrimary mitochondrial diseases

Identifiers

PMID39533303
PMCPMC11555972

What Socratic holds

Textmetadata
LicenceCC BY
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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 Socratic graph.