Mitochondrial dysfunction in autism spectrum disorders: Cause or effect?
Open accessAbstract
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].”
From Consensus Paper: Pathological Role of the Cerebellum in Autism (2012) · cites this paper as [249]
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Red Flags in Primary Mitochondrial Diseases: What Should We Recognize?
Conti, F., Martino, S. D., Drago, F., Bucolo, C., Micale, V., Montano, V., Siciliano, G., Mancuso, M., & Lopriore, P. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms242316746 · Cited by 14 · see citing works
Cell Therapy Targets for Autism Spectrum Disorders: Hopes, Challenges and Future Directions
Larijani, B. A., Heravani, N. F., Alavi-Moghadam, S., Goodarzi, P., Rezaei–Tavirani, M., Payab, M., Gholami, M., Razi, F., & Arjmand, B. (2020) · Advances in experimental medicine and biology · doi:10.1007/5584_2020_491 · Cited by 14 · see citing works
- 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
- bronze
- doi.org
- Licence
- 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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