Mitochondrial dysfunction in Autism Spectrum Disorder: clinical features and perspectives

2017 ◽  
Vol 45 ◽  
pp. 178-187 ◽  
Author(s):  
Fiona Hollis ◽  
Alexandros K Kanellopoulos ◽  
Claudia Bagni
Keyword(s):  
Autism Spectrum Disorder ◽  
Mitochondrial Dysfunction ◽  
Clinical Features ◽  
Autism Spectrum ◽  
Spectrum Disorder

scholarly journals Mitochondrial Dysfunction in Early Diagnosed Autism Spectrum Disorder Children

2017 ◽  
Vol 26 (1) ◽  
pp. 43-47 ◽  
Author(s):  
Shorifa Shahjadi ◽  
Arif Salam Khan ◽  
Mesbah Uddin Ahmed
Keyword(s):  
Autism Spectrum Disorder ◽  
Mitochondrial Dysfunction ◽  
Venous Blood ◽  
Autism Spectrum ◽  
Serum Lactate ◽  
Spectrum Disorder ◽  
Control Group ◽  
P Value ◽  
Blood Ammonia ◽  
Normal Children

Background: Mitochondrial dysfunction and abnormal brain bioenergetics can cause autism.Cellular function impairment due to mitochondrial dysfunction may cause cognitive impairment, language deficits and abnormal energy metabolism in autism.Objective: The aim of this study was to evaluate biochemical evidence of the mitochondrial dysfunction by measuring blood ammonia, serum lactate, alanine aminotransferase (ALT), aspartate aminotransferase (AST) and creatinine kinase (CK) in autism spectrum disorder children.Methods: This observational type of analytical study with case-control design was conducted in the Department of Physiology of Bangabandhu Sheikh Mujib Medical University (BSMMU), Shahbag, Dhaka. For this study, a total number of 20 Subjects were randomly selected, among which 10 were apparently healthy subjects (control group-A) for comparison and 10 were diagnosed children with autism spectrum disorder (study group-B). 5ml venous blood was collected from both groups for analysis serum CK, AST, ALT, lactate and blood ammonia. Blood ammonia, serum lactate, AST, ALT and CK level were estimated in all children by standard laboratory method. Independent sample‘t’ test was used for statistical analysis. P value <0.05 was accepted as significant. The mean of all the measured biochemical variables in normal children were within normal ranges.Result: Blood ammonia, serum lactate, AST, CK were found significantly higher in autism spectrum disorder children in comparison to control Conclusion: From the result of this study it may be concluded that mitochondrial dysfunction occur in autistic spectrum disorder children .J Dhaka Medical College, Vol. 26, No.1, April, 2017, Page 43-47

The effect of age, sex and clinical features on the volume of Corpus Callosum in pre-schoolers with Autism Spectrum Disorder: a case-control study

2017 ◽  
Vol 47 (6) ◽  
pp. 568-578 ◽  
Author(s):  
Alessia Giuliano ◽  
Irene Saviozzi ◽  
Paolo Brambilla ◽  
Filippo Muratori ◽  
Alessandra Retico ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Corpus Callosum ◽  
Clinical Features ◽  
Case Control Study ◽  
Autism Spectrum ◽  
Case Control ◽  
Spectrum Disorder ◽  
Effect Of Age ◽  
Control Study

Genetic and clinical evidence of mitochondrial dysfunction in autism spectrum disorder and intellectual disability

2017 ◽  
Vol 27 ◽  
pp. S595-S596
Author(s):  
A. Valiente Pallejà ◽  
G. Muntané ◽  
M. Cortés ◽  
R. Martinez-Leal ◽  
H. Torrell ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Intellectual Disability ◽  
Mitochondrial Dysfunction ◽  
Clinical Evidence ◽  
Autism Spectrum ◽  
Spectrum Disorder

scholarly journals Mitochondrial Dysfunction as a Neurobiological Subtype of Autism Spectrum Disorder

2014 ◽  
Vol 71 (6) ◽  
pp. 665 ◽  
Author(s):  
Suzanne Goh ◽  
Zhengchao Dong ◽  
Yudong Zhang ◽  
Salvatore DiMauro ◽  
Bradley S. Peterson
Keyword(s):  
Autism Spectrum Disorder ◽  
Mitochondrial Dysfunction ◽  
Autism Spectrum ◽  
Spectrum Disorder

scholarly journals DNA methylation of PGC-1α is associated with elevated mtDNA copy number and altered urinary metabolites in Autism Spectrum Disorder

2021 ◽  
Author(s):  
Sophia Bam ◽  
Erin Buchanan ◽  
Caitlyn Mahony ◽  
Colleen O’Ryan
Keyword(s):  
Autism Spectrum Disorder ◽  
Dna Methylation ◽  
Mitochondrial Dysfunction ◽  
Copy Number ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Peroxisome Proliferator ◽  
Mtdna Copy Number ◽  
Cpg Sites ◽  
Mtdna Deletions

AbstractBackgroundAutism Spectrum Disorder (ASD) is a complex disorder that is underpinned by numerous dysregulated biological pathways, including canonical mitochondrial pathways. Epigenetic mechanisms contribute to this dysregulation and DNA methylation is an important factor in the aetiology of ASD. We examined the relationship between DNA methylation of peroxisome proliferator-activated receptor gamma coactivator-1 alpha (PGC-1α), an essential transcriptional regulator of mitochondrial homeostasis, and mitochondrial dysfunction in an ASD cohort of South African children.ResultsUsing targeted Next Generation bisulfite sequencing, we found 12 highly variable CpG sites in PGC-1α that were significantly differentially methylated (p<0.05) between ASD (n = 55) and controls (n = 44). In ASD, eight CpG sites were hypermethylated in the PGC-1α promotor with a putative binding site for CAMP response binding element 1 (CREB1) spanning one of these CpG sites (p = 1 × 10−6). Mitochondrial DNA (mtDNA) copy number, a marker of mitochondrial function, was elevated (p = 0.002) in ASD compared to controls and correlated significantly with DNA methylation at the PGC-1α promoter. There was a positive correlation between methylation at PGC-1α at CpG#1 and mtDNA copy number (Spearman’s r = 0.2, n = 49, p = 0.04) in ASD, but a negative correlation between methylation at PGC-1α at CpG#4 promoter and mtDNA copy number in controls (Spearman’s r = −0.4, n = 42, p = 0.045). While there was no relationship between mtDNA deletions and PGC-1α methylation in ASD, mtDNA deletions correlated negatively with methylation at PGC-1α at CpG#4 (Spearman’s r = −0.4, n = 42, p = 0.032) in controls. Furthermore, levels of urinary organic acids associated with mitochondrial dysfunction correlated significantly (p<0.05) with DNA methylation at PGC-1α CpG#1 and mtDNA copy number in ASD (n= 20) and controls (n= 13) with many of these metabolites involved in altered redox homeostasis and neuroendocrinology.ConclusionsThese data show an association between PGC-1α promoter methylation, elevated mtDNA copy number and metabolomic evidence of mitochondrial dysfunction in ASD. This highlights an unexplored link between DNA methylation and mitochondrial dysfunction in ASD.

Sign in / Sign up

Export Citation Format

Share Document