ArticleCell journal2012
Investigation of the Mitochondrial ATPase 6/8 and tRNA(Lys) Genes Mutations in Autism.
Article in Cell journal, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
What it found
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 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
- Mitochondrial ATP synthase 8 single-nucleotide polymorphism affects oxidative stress and survival of mice.Pflugers Archiv : European journal of physiology · 2025Article
- Variants in Human ATP Synthase Mitochondrial Genes: Biochemical Dysfunctions, Associated Diseases, and Therapies.International journal of molecular sciences · 2024Review
- The mitochondrial genome as a modifier of autism versus cancer phenotypes inHGG advances · 2023Article
- Concurrent Assessment of Oxidative Stress and MT-ATP6 Gene Profiling to Facilitate Diagnosis of Autism Spectrum Disorder (ASD) in Tamil Nadu Population.Journal of molecular neuroscience : MN · 2023Article
- Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder.Frontiers in genetics · 2022Article
- Mitochondrial dysfunction: A hidden trigger of autism?Genes & diseases · 2021Review
- Maternal toxoplasmosis and the risk of childhood autism: serological and molecular small-scale studies.BMC pediatrics · 2021Article
- Clinical and Molecular Characteristics of Mitochondrial Dysfunction in Autism Spectrum Disorder.Molecular diagnosis & therapy · 2018Review
- ATP Synthase Diseases of Mitochondrial Genetic Origin.Frontiers in physiology · 2018Review
- Article
- Deficits in bioenergetics and impaired immune response in granulocytes from children with autism.Pediatrics · 2014Review
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveAutism results from developmental factors that affect many or all functional brain systems. Brain is one of tissues which are crucially in need of adenosine triphosphate (ATP). Autism is noticeably affected by mitochondrial dysfunction which impairs energy metabolism. Considering mutations within ATPase 6, ATPase 8 and tRNA(Lys) genes, associated with different neural diseases, and the main role of ATPase 6/8 in energy generation, we decided to investigate mutations on these mtDNA-encoded genes to reveal their roles in autism pathogenesis. MATERIALS AND
methodsIn this experimental study, mutation analysis for the mentioned genes were performed in a cohort of 24 unrelated patients with idiopathic autism by employing amplicon sequencing of mtDNA fragments.
resultsIn this study, 12 patients (50%) showed point mutations that represent a significant correlation between autism and mtDNA variations. Most of the identified substitutions (55.55%) were observed on MT-ATP6, altering some conserved amino acids to other ones which could potentially affect ATPase 6 function. Mutations causing amino acid replacement denote involvement of mtDNA genes, especially ATPase 6 in autism pathogenesis.
conclusionMtDNA mutations in relation with autism could be remarkable to realize an understandable mechanism of pathogenesis in order to achieve therapeutic solutions.
Indexed as
Identifiers
23508290PMC3584428W2167060184What OpenQuestion holds
Registered trials
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