Mitochondrial dysfunction in Autism Spectrum Disorders: cause or effect? Calcium

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.. Mitochondrial

dysfunction in Autism Spectrum Disorders: cause or effect?

Palmieri L, Persico AM.

Laboratory of Biochemistry and Molecular Biology, Department of

Pharmaco-Biology, University of Bari, Via Orabona 4, 70125, Bari, Italy;

Consiglio Nazionale delle Ricerche, Institute of Biomembranes and

Bioenergetics, Bari, Italy.

Biochim Biophys Acta. 2010 May 1. [Epub ahead of print]

http://www.ncbi.nlm.nih.gov/pubmed/20441769

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, ( serum carnitine

deficiency, and/or © 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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While the dioxin-like PCBs are considered the

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explanations for this divergence seems to be that

ortho-substituted PCBs are more potent in disrupting

Ca2+ homeostasis and Ca2+ signalling pathways

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treatment as well as in vitro studies on neurons such

as cerebellar granule cells (16,18–19). The observed

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dopamine in brain and in neuronal cell cultures

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..

Sheri Nakken, R.N., MA, Hahnemannian

Homeopath

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