Succinate dehydrogenase and leukoencephalopathy

• July 27th, 2009

A gene encoding a protein essential for the assembly of succinate dehydrogenase has been implicated in an infantile leukoencephalopathy.

Nat Genet. 2009 May 24. [Epub ahead of print]

SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy.

Ghezzi D et al.

Click this link to see the most recent online abstracts of major genetics journals.

Philippe Campeau

Neurotransmitter diseases

• October 28th, 2007

For recent reviews of inherited neurotransmitter diseases, please see these two recent reviews:
Molecular Genetics and Metabolism 92 (2007) 189–197
Neurotransmitter diseases and related conditions
Campeau PM, Bernard G, Clayton PT

J Child Neurol. 2007 May;22(5):606-16.
The pediatric neurotransmitter disorders.
Pearl PL, Taylor JL, Trzcinski S, Sokohl A.

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Click this link to see the most recent online abstracts of major genetics journals.

Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

• August 25th, 2007

A group led by Orly Elpeleg has identified a gene associated with pontocerebellar hypoplasia, a heterogenous group of conditions.

Deleterious Mutation in the Mitochondrial ArginylTransfer RNA Synthetase Gene Is Associated with Pontocerebellar Hypoplasia
Simon Edvardson, Avraham Shaag, Olga Kolesnikova, John Moshe Gomori, Ivan Tarassov, Tom Einbinder, Ann Saada, and Orly Elpeleg
The American Journal of Human Genetics, volume 81 (2007),   
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Click this link to see the most recent online abstracts of major genetics journals.
Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

Mitochondrial aspartyl-tRNA synthetase

• April 18th, 2007

Nat Genet. 2007 Apr;39(4):534-9. Epub 2007 Mar 25.

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy
with brain stem and spinal cord involvement and lactate elevation.

Scheper GC, van der Klok T, van Andel RJ, van Berkel CG, Sissler M, Smet J,
Muravina TI, Serkov SV, Uziel G, Bugiani M, Schiffmann R, Krageloh-Mann I,
Smeitink JA, Florentz C, Van Coster R, Pronk JC, van der Knaap MS.

Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is a recently defined condition. In this interesting study, mutations were identified in a gene encoding mitochondrial aspartyl-tRNA synthetase, in affected individuals from all 30 families studied.
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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

Autism risk loci mapping

• February 26th, 2007

In this paper:

Mapping autism risk loci using genetic linkage and chromosomal rearrangements
The Autism Genome Project Consortium
Nature Genetics
Published online Feb 18th 2007

A consortium of investigators mapped regions implicated in autism in the largest cohort of families with autism. They implicated chromosome region 11p12–p13 and neurexins.

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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

Canavan disease and the role of N-acetylaspartate in myelin synthesis

• July 5th, 2006

Canavan disease and the role of N-acetylaspartate in myelin synthesis
Namboodiri AM, Peethambaran A, Mathew R, Sambhu PA, Hershfield J, Moffett JR, Madhavarao CN.

Mol Cell Endocrinol. 2006 Jun 27;252(1-2):216-23

 
In this article, the authors give further proof that N-acetylaspartate acts as an acetate carrier from mitochondria to the cytosol, and is thus important for lipogenesis and myelination in the central nervous system.
They recall that in the brain of Canavan disease mice (APSA -/-), there was nearly an 80% reduction in free acetate levels.
Supplementing these mice with glyceryl triacetate increases the brain acetate levels without affecting N-acetylaspartate levels and without toxicity.

For more information on Canavan disease, see chapter 229 of OMMBID.
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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator