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Reassessing the role of mitochondrial DNA mutations in autism spectrum disorder

Vanesa Álvarez-Iglesias1, Ana Mosquera-Miguel1, Ivón Cuscó23, Ángel Carracedo134, Luis Alberto Pérez-Jurado2356 and Antonio Salas1*

Author Affiliations

1 Unidade de Xenética, Instituto de Medicina Legal and Departamento de Anatomía Patolóxica e Ciencias Forenses, Facultade de Medicina, Universidade de Santiago de Compostela, Galicia, Spain

2 Unidad de Genética, Universitat Pompeu Fabra, Barcelona, Spain

3 CIBER de enfermedades raras (CIBERER), Spain

4 Fundación Pública Galega de Medicina Xenómica, SERGAS, Santiago de Compostela, Galicia, Spain

5 Programa de Medicina Molecular y Genética, Hospital Universitari Vall d'Hebron, Barcelona, Spain

6 Dept. of Genome Sciences, University of Washington, Seattle, WA, USA

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BMC Medical Genetics 2011, 12:50  doi:10.1186/1471-2350-12-50

Published: 6 April 2011



There 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.


We 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.


We did not find statistical support for an association between mtDNA mutations or polymorphisms and ASD.


Our 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.