Homozygosity analysis in subjects with autistic spectrum disorder

Adi, Ahmad; Tawil, Basma; Al‐Dosari, Mohammed S.; Shinwari, Jameela; Nester, Michael; Aldhalaan, Hisham; Al-Shamrani, Hussain; Ghannam, Manar; Meyer, Brian F.; Tassan, Nada Al

doi:10.3892/mmr.2015.3663

Cited by 2 publications

(1 citation statement)

References 29 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Small ROH reflect our common human inheritance; larger and more numerous ROH can occur because of chromosomal segments shared between consanguineous family members. ROH can include genes associated with mitochondrial function as well as cerebral synapses and neurotransmitters that are associated with ASD [ 100 ].…”

Section: Summary Of the Literaturementioning

confidence: 99%

Clinical and Molecular Characteristics of Mitochondrial Dysfunction in Autism Spectrum Disorder

Rose

Niyazov

Rossignol³

et al. 2018

Mol Diagn Ther

173

157

View full text Add to dashboard Cite

Autism spectrum disorder (ASD) affects ~ 2% of children in the United States. The etiology of ASD likely involves environmental factors triggering physiological abnormalities in genetically sensitive individuals. One of these major physiological abnormalities is mitochondrial dysfunction, which may affect a significant subset of children with ASD. Here we systematically review the literature on human studies of mitochondrial dysfunction related to ASD. Clinical aspects of mitochondrial dysfunction in ASD include unusual neurodevelopmental regression, especially if triggered by an inflammatory event, gastrointestinal symptoms, seizures, motor delays, fatigue and lethargy. Traditional biomarkers of mitochondrial disease are widely reported to be abnormal in ASD, but appear non-specific. Newer biomarkers include buccal cell enzymology, biomarkers of fatty acid metabolism, non-mitochondrial enzyme function, apoptosis markers and mitochondrial antibodies. Many genetic abnormalities are associated with mitochondrial dysfunction in ASD, including chromosomal abnormalities, mitochondrial DNA mutations and large-scale deletions, and mutations in both mitochondrial and non-mitochondrial nuclear genes. Mitochondrial dysfunction has been described in immune and buccal cells, fibroblasts, muscle and gastrointestinal tissue and the brains of individuals with ASD. Several environmental factors, including toxicants, microbiome metabolites and an oxidized microenvironment are shown to modulate mitochondrial function in ASD tissues. Investigations of treatments for mitochondrial dysfunction in ASD are promising but preliminary. The etiology of mitochondrial dysfunction and how to define it in ASD is currently unclear. However, preliminary evidence suggests that the mitochondria may be a fruitful target for treatment and prevention of ASD. Further research is needed to better understand the role of mitochondrial dysfunction in the pathophysiology of ASD.

show abstract

Section: Summary Of the Literaturementioning

confidence: 99%