Mitochondrial dysfunction in autism spectrum disorders: Cause or effect?

Luigi Palmieri, Antonio M. Persico

Research output: Contribution to journalArticle

Abstract

Autism Spectrum Disorders encompass severe developmental disorders characterized by variable degrees of impairment in language, communication and social skills, as well as by repetitive and stereotypic patterns of behaviour. Substantial percentages of autistic patients display peripheral markers of mitochondrial energy metabolism dysfunction, such as (a) elevated lactate, pyruvate, and alanine levels in blood, urine and/or cerebrospinal fluid, (b) serum carnitine deficiency, and/or (c) enhanced oxidative stress. These biochemical abnormalities are accompanied by highly heterogeneous clinical presentations, which generally (but by no means always) encompass neurological and systemic symptoms relatively unusual in idiopathic autistic disorder. In some patients, these abnormalities have been successfully explained by the presence of specific mutations or rearrangements in their mitochondrial or nuclear DNA. However, in the majority of cases, abnormal energy metabolism cannot be immediately linked to specific genetic or genomic defects. Recent evidence from post-mortem studies of autistic brains points toward abnormalities in mitochondrial function as possible downstream consequences of dysreactive immunity and altered calcium (Ca2+) signalling.

Original languageEnglish
Pages (from-to)1130-1137
Number of pages8
JournalBiochimica et Biophysica Acta - Bioenergetics
Volume1797
Issue number6-7
DOIs
Publication statusPublished - Jun 2010

Keywords

  • Aspartate-glutamate carrier
  • Autism
  • Calcium signalling
  • Immune dysfunction
  • Mitochondria
  • Oxidative stress

ASJC Scopus subject areas

  • Biochemistry
  • Biophysics
  • Cell Biology

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