Cited by 174Autism Spectrum Disorder ResearchMitochondrial Function and PathologyGenetics and Neurodevelopmental Disorders

Mitochondrial dysfunction in autism spectrum disorders: Cause or effect?

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Palmieri, Luigi, Persico, Antonio M.·2010·Biochimica et Biophysica Acta (BBA) - Bioenergetics

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 (Ca(2+)) signalling.

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  • SLC25A12 gene variants have been found associated with either liability or protection from autism.

    “Also SLC25A12 gene variants have been found associated with either liability or protection from autism [249].”

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Authors
Palmieri, L., & Persico, A. M.
Affiliations
  • Institute of Biomembranes, Bioenergetics and Molecular Biotechnologies (IT)
  • Università Campus Bio-Medico (IT)
Corresponding author
  • Palmieri, Luigi
  • Persico, Antonio M.
Venue
Biochimica et Biophysica Acta (BBA) - Bioenergetics
Publisher
Elsevier BV
Published
2010-06
Volume
1797
Issue
6-7
Pages
1130-1137
ISSN
0005-2728 (ISSN-L)
OpenAlex
W2034248731
Cited by
173
References
89
Citations by year
2026: 4 · 2025: 3 · 2024: 5 · 2023: 5 · 2022: 12 · 2021: 8 · 2020: 18 · 2019: 5 · 2018: 10 · 2017: 7 · 2016: 12 · 2015: 9 · 2014: 18 · 2013: 23 · 2012: 17
FWCI
1.33
Type
journal article
Language
en
Open access
Locations
  • Biochimica et Biophysica Acta (BBA) - Bioenergetics (publishedVersion)
  • PubMed (publishedVersion)
  • IRIS UNIMORE (University of Modena and Reggio Emilia) (submittedVersion, cc-by)
  • CINECA IRIS Institutional Research Information System (University of Bari Aldo Moro) (submittedVersion)
  • INFM-OAR (INFN Catania) (submittedVersion, other-oa)
  • Zenodo (CERN European Organization for Nuclear Research) (other-oa)
Funders
  • Italian Ministry for University, Scientific Research and Technology (Programmi di Ricerca di Interesse Nazionale, PRIN)
  • Italian Ministry of Health (RFPS-2007-5-640174)
  • Autism Speaks Foundation (Princeton, N.J.)
Topics
  • Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Keywords
mitochondrial dysfunction, autism spectrum disorder, mitochondrial bioenergetics, lactate, pyruvate, alanine, carnitine deficiency, oxidative stress, mitochondrial DNA mutations, calcium signaling, postmortem brain
MeSH terms
Brain, Child Development Disorders, Pervasive, Child, Preschool, DNA, Mitochondrial, Humans, Mitochondria, Models, Biological, Mutation, Oxidative Stress, Calcium Signaling, Mitochondrial Diseases

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