Vaccines/Autism - 65% of ASD Kids Have Mitichondrial Disorder
From: "Clifford G. Miller"
April 2008
Please circulate - latest research below. The US vaccines-to-autism case of Hannah Poling is not new or rare.email: letters@sunday-times.co.ukHere is the abstract of the AAN paper, courtesy of Professor Jeff Bradstreet of Thoughtful House, Austin, Texas:-
John Witherow Esq
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"Oxidative Phosphorylation (OXPHOS) Defects in Children with Autistic Spectrum Disorders
[IN1-1.004]
John Shoffner, Lauren C. Hyams, Genevieve N. Langley, Atlanta, GA
OBJECTIVE: To retrospectively survey patients with autistic spectrum disorders that were evaluated clinically for mitochondrial disease and to assess the clinical and laboratory features of this group of patients. BACKGROUND: Autism is a developmental disorder characterized by disturbance in language, perception and socialization. A variety of biochemical, anatomical and neuroradiographical studies imply a disturbance of brain energy metabolism in autistic patients. Recent studies confirmed the previously reported high frequency of biochemical markers of mitochondrial dysfunction, namely hyperlactacidemia and increased lactate/pyruvate ratio, in a significant fraction of 210 autistic patients. (J Autism Dev Disord, 2006. 36:1137) Although rare, Mecp2 mutations can produce autistic features and the mouse model has significant mitochondrial defects. (Mol Cell Biol, 2006. 26: 5033) Additional genetic defects associated with mitochondrial dysfunction include inverted 15q11-13 duplication (Complex III defect) (Ann Neurol, 2003,53,801), A3243G mutation (mitochondrial transfer RNALeucine(UUR) gene, mtDNA depletion(J Pediatr, 2004,144,81), G8363A mutation (mitochondrial transfer RNALysine gene. (J Child Neurol, 2000,15,357). DESIGN/METHODS: Retrospective analysis of 37 children with autistic spectrum disorders. Clinical, biochemical, metabolic, and genetic data is assessed. RESULTS: Twenty four children (65%) had skeletal muscle OXPHOS defects: Complex I (16), Complex I and Complex III (5), Complex III (1), Complex I and Complex IV (2). Thirteen (35%) had normal skeletal muscle OXPHOS enzyme activities for Complexes I-IV. Clinical, metabolic, protein chemistry, and sequencing of coding regions of the mitochondrial DNA will be reported. CONCLUSIONS/RELEVANCE: Most children with autistic spectrum disorders do not have recognizable abnormalities on a broad range of imaging, metabolic and genetic studies. However, a subset of patients do harbor significant defects in oxidative phosphorylation function. Complex I abnormalities are the most frequently encountered defect. Recognition of these children is important for understanding how genes that produce autistic spectrum disorders impact mitochondrial function. Supported by: Horizon Molecular Medicine.
Category - Neurogenetics and Gene Therapy
SubCategory - Other
Sunday, April 13, 2008 2:45 PM
Platform Session: Integrated Neuroscience: Autism (2:00 PM-3:15 PM)
Annual Meeting American Academy of Neurology "