ArticleBMC medical genetics2011
Reassessing the role of mitochondrial DNA mutations in autism spectrum disorder.
Article in BMC medical genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled 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.
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.
Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 34 citations in OpenAlex.
- Meta-Analysis of Gene Expression in Autism Spectrum Disorder.Autism research : official journal of the International Society for Autism Research · 2015Pooled it
- Tetrahydrobiopterin and Autism Spectrum Disorder: A Systematic Review of a Promising Therapeutic Pathway.Brain sciences · 2025Review
- Mitochondrial DNA Haplogroup K Is Protective Against Autism Spectrum Disorder Risk in Populations of European Ancestry.Journal of the American Academy of Child and Adolescent Psychiatry · 2024Article
- Association between the single nucleotide variants of the mitochondrial cytochrome B gene (MT-CYB) and the male infertility.Molecular biology reports · 2022Article
- Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder.Frontiers in genetics · 2022Article
- Assessment of correlation between asthenozoospermia and mitochondrial DNA mutations in Egyptian infertile men.Journal, genetic engineering & biotechnology · 2021Article
- Molecular Mechanisms of Aberrant Neuroplasticity in Autism Spectrum Disorders (Review).Sovremennye tekhnologii v meditsine · 2021Review
- Untargeted Metabolomics for Autism Spectrum Disorders: Current Status and Future Directions.Frontiers in psychiatry · 2019Review
- Clinical and Molecular Characteristics of Mitochondrial Dysfunction in Autism Spectrum Disorder.Molecular diagnosis & therapy · 2018Review
- 'Infertile' studies on mitochondrial DNA variation in asthenozoospermic Tunisian men.Biochemistry and biophysics reports · 2016Article
- Autism, Mitochondria and Polybrominated Diphenyl Ether Exposure.CNS & neurological disorders drug targets · 2016Review
- Pathophysiology of autism spectrum disorders: revisiting gastrointestinal involvement and immune imbalance.World journal of gastroenterology · 2014Review
- Association of human mtDNA mutations with autism in Iranian patients.Journal of research in medical sciences : the official journal of Isfahan University of Medical Sciences · 2013Article
- Role of NAD(+), Oxidative Stress, and Tryptophan Metabolism in Autism Spectrum Disorders.International journal of tryptophan research : IJTR · 2013Article
- Mitochondrial DNA mutations in two bulgarian children with autistic spectrum disorders.Balkan journal of medical genetics : BJMG · 2012Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThere is increasing evidence that impairment of mitochondrial energy metabolism plays an important role in the pathophysiology of autism spectrum disorders (ASD; OMIM number: 209850). A significant proportion of ASD cases display biochemical alterations suggestive of mitochondrial dysfunction and several studies have reported that mutations in the mitochondrial DNA (mtDNA) molecule could be involved in the disease phenotype.
methodsWe analysed a cohort of 148 patients with idiopathic ASD for a number of mutations proposed in the literature as pathogenic in ASD. We also carried out a case control association study for the most common European haplogroups (hgs) and their diagnostic single nucleotide polymorphisms (SNPs) by comparing cases with 753 healthy and ethnically matched controls.
resultsWe did not find statistical support for an association between mtDNA mutations or polymorphisms and ASD.
conclusionsOur results are compatible with the idea that mtDNA mutations are not a relevant cause of ASD and the frequent observation of concomitant mitochondrial dysfunction and ASD could be due to nuclear factors influencing mitochondrion functions or to a more complex interplay between the nucleus and the mitochondrion/mtDNA.
Indexed as
Identifiers
What OpenQuestion holds
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.