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Next Generation Sequencing Mitochondrial DNA Analysis in Autism Spectrum Disorder
Autism research, 2017-08, Vol.10 (8), p.1338-1343
Patowary, Ashok
Nesbitt, Ryan
Archer, Marilyn
Bernier, Raphael
Brkanac, Zoran
2017
Volltextzugriff (PDF)
Details
Autor(en) / Beteiligte
Patowary, Ashok
Nesbitt, Ryan
Archer, Marilyn
Bernier, Raphael
Brkanac, Zoran
Titel
Next Generation Sequencing Mitochondrial DNA Analysis in Autism Spectrum Disorder
Ist Teil von
Autism research, 2017-08, Vol.10 (8), p.1338-1343
Ort / Verlag
United States: Wiley Subscription Services, Inc
Erscheinungsjahr
2017
Quelle
Alma/SFX Local Collection
Beschreibungen/Notizen
Autism is a complex genetic disorder where both de‐novo and inherited genetics factors play a role. Next generation sequencing approaches have been extensively used to identify rare variants associated with autism. To date, all such studies were focused on nuclear genome; thereby leaving the role of mitochondrial DNA (mtDNA) variation in autism unexplored. Recently, analytical tools have been developed to evaluate mtDNA in whole‐exome data. We have analyzed the mtDNA sequence derived from whole‐exome sequencing in 10 multiplex families. In one of the families we have identified two variants of interest in MT‐ND5 gene that were previously determined to impair mitochondrial function. In addition in a second family we have identified two VOIs; mtDNA variant in MT‐ATP6 and nuclear DNA variant in NDUFS4, where both VOIs are within mitochondrial Respiratory Chain Complex. Our findings provide further support for the role of mitochondria in ASD and confirm that whole‐exome sequencing allows for analysis of mtDNA, which sets a stage for further comprehensive genetic investigations of the role of mitochondria in autism. Autism Res 2017, 10: 1338–1343. © 2017 International Society for Autism Research, Wiley Periodicals, Inc.
Sprache
Englisch
Identifikatoren
ISSN: 1939-3792
eISSN: 1939-3806
DOI: 10.1002/aur.1792
Titel-ID: cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5573912
Format
–
Schlagworte
Autism
,
autism spectrum disorder
,
Deoxyribonucleic acid
,
DNA
,
Gene sequencing
,
Genetic disorders
,
Mathematical analysis
,
Mitochondria
,
Mitochondrial DNA
,
Multiplexing
,
next generation sequencing
,
Short Report
,
single nucleotide variation
,
whole exome sequencing
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