RT Journal Article
T1 Reassessing the role of mitochondrial DNA mutations in autism spectrum disorder
A1 Álvarez Iglesias, Vanesa
A1 Mosquera Miguel, Ana
A1 Cuscó, Ivón
A1 Carracedo Álvarez, Ángel
A1 Pérez Jurado, Luís Alberto
A1 Salas Ellacuriaga, Antonio
K1 Autism Spectrum Disorder
K1 Mitochondrial Energy Metabolism
K1 European Haplogroups
K1 Mitochondrial Respiratory Chain Disorder
K1 Raven Progressive Matrix
AB BackgroundThere is increasing evidence that impairment of mitochondrial energy metabolism plays an important role in the pathophysiology of autism spectrum disorders (ASD; OMIM number: 209850). A significant proportion of ASD cases display biochemical alterations suggestive of mitochondrial dysfunction and several studies have reported that mutations in the mitochondrial DNA (mtDNA) molecule could be involved in the disease phenotype.MethodsWe analysed a cohort of 148 patients with idiopathic ASD for a number of mutations proposed in the literature as pathogenic in ASD. We also carried out a case control association study for the most common European haplogroups (hgs) and their diagnostic single nucleotide polymorphisms (SNPs) by comparing cases with 753 healthy and ethnically matched controls.ResultsWe did not find statistical support for an association between mtDNA mutations or polymorphisms and ASD.ConclusionsOur results are compatible with the idea that mtDNA mutations are not a relevant cause of ASD and the frequent observation of concomitant mitochondrial dysfunction and ASD could be due to nuclear factors influencing mitochondrion functions or to a more complex interplay between the nucleus and the mitochondrion/mtDNA.
PB BioMed Central
SN 1471-2350
YR 2011
FD 2011
LK http://hdl.handle.net/10347/23005
UL http://hdl.handle.net/10347/23005
LA eng
NO Álvarez-Iglesias, V., Mosquera-Miguel, A., Cuscó, I. et al. Reassessing the role of mitochondrial DNA mutations in autism spectrum disorder. BMC Med Genet 12, 50 (2011). https://doi.org/10.1186/1471-2350-12-50
NO This project was supported by grants from Fundación de Investigación Médica Mutua Madrileña (2008/CL444) and Ministerio de Ciencia e Innovación (SAF2008-02971), given to AS, and Fondo de Investigación Sanitaria (PI076832) to LAPJ
DS Minerva
RD 29 abr 2026