Back to Search
Start Over
AMPD1 functional variants associated with autism in Han Chinese population
- Source :
- European Archives of Psychiatry and Clinical Neuroscience. 265:511-517
- Publication Year :
- 2014
- Publisher :
- Springer Science and Business Media LLC, 2014.
-
Abstract
- Autism is a childhood neurodevelopmental disorder with high heterogeneity. Following our genome-wide associated loci with autism, we performed sequencing analysis of the coding regions, UTR and flanking splice junctions of AMPD1 in 830 Chinese autism individuals as well as 514 unrelated normal controls. Fourteen novel variants in the coding sequence were identified, including 11 missense variants and 3 synonymous mutations. Among these missense variants, 10 variants were absent in 514 control subjects, and conservative and functional prediction was carried out. Mitochondria activity and lactate dehydrogenase assay were performed in 5 patients' lymphoblast cell lines; p.P572S and p.S626C showed decreased mitochondrial complex I activity, and p.S626C increased lactate dehydrogenase release in medium. Conclusively, our data suggested that mutational variants in AMPD1 contribute to autism risk in Han Chinese population, uncovering the contribution of mutant protein to disease development that operates via mitochondria dysfunction and cell necrosis.
- Subjects :
- Male
Untranslated region
China
Adolescent
Biology
medicine.disease_cause
AMP Deaminase
Cell Line
Neurodevelopmental disorder
Asian People
medicine
Humans
Missense mutation
Coding region
Pharmacology (medical)
Heritability of autism
Autistic Disorder
Child
Biological Psychiatry
Genetics
Mutation
L-Lactate Dehydrogenase
General Medicine
medicine.disease
Molecular biology
Mitochondria
Psychiatry and Mental health
Child, Preschool
Autism
Female
Synonymous substitution
Subjects
Details
- ISSN :
- 14338491 and 09401334
- Volume :
- 265
- Database :
- OpenAIRE
- Journal :
- European Archives of Psychiatry and Clinical Neuroscience
- Accession number :
- edsair.doi.dedup.....5697d4de1a8df5c9c1b85c1b82fa5497