65% Autistic Children Found To Have Mitochondrial Disorder

[Guest guest]

Mitochondrial Dysfunction is a very common problem amongst children on

the spectrum. NEWS12 - LI Naturally host Mucci spent hours with

my colleague, Dr. Gruttadauria and two moms of patients in his

practice last week for an upcoming story on Autism and Mitochondrial

Dysfunction.

See the story here:

https://www.news12.com/NewCDA/articles/media_pop?region=LI & id=174524

“There are two boys with Autism in my practice whose moms have given

them baby brothers recently. We wanted to see if siblings of children

on the spectrum indeed had metabolic issues and/or Mitochondrial

Dysfunction. Metametrix donated their Organic Acids Profile for both

families so we could test these two babies for clinical signs of

metabolic imbalance/Mitochondrial Dysfunction.â€

“Because both babies are developing typically, both mom's were shocked

to find out that their boys indeed had metabolic changes, including

markers for Mitochondrial Dysfunction, come back in the test results.â€

“You can read more about Mitochondrial Dysfunction in the article

below, and sign up for a FREE teleconference on Autism that I am

hosting on August 14th at 7 pm EST by clicking this link which will

take you to a registration page.†www.justaskdrmike.com

65% Autistic Children Found To Have Mitochondrial Disorder

At an American Academy of Neurology meeting last Sunday it was

revealed in a recent research paper, see below, that 65% of children

with Austistic Spectrum Disorders assessed were found to have

mitochondrial disorder (MtD) and so were always at risk of autism

caused by one or more vaccines.

Oxidative Phosphorylation (OXPHOS) Defects in Children with Autistic

Spectrum Disorders [iN1-1.004]

Shoffner, 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 "