Posts By: pcampeau

IDH1 mutation in gliomas

Posted by & filed under Part 04: CANCER, Part 10: DISORDERS OF MITOCHONDRIAL FUNCTION.

Certain gliomas have somatic mutation in cytosolic isocitrate dehydrogenase 1. Dang et al. have shown that these mutations confer the enzyme the new ability to transform alpha-ketoglutarate in 2-hydroxyglutarate. This metabolite might be oncogenic, although this is not proven yet. Dang L, White DW, Gross S, et al. Cancer-associated IDH1 mutations produce 2-hydroxyglutarate. Nature 2009;462:739-744 […]

Treatment of Wilson disease with NaPB

Posted by & filed under Part 14: METALS, Treatment.

Chaperones such as phenylbutyrate and curcumin can be used to treat conditions with misfolded proteins such as ATP7 in Wilson Disease. Hepatology. 2009 Dec;50(6):1783-95. Reduced expression of ATP7B affected by Wilson disease-causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin. van den Berghe PV, Stapelbroek JM, Krieger E, de Bie P, van de […]


Posted by & filed under Meetings.

The 2010 SSIEM Annual Symposium will take place August 31 to September 3, 2010 in Istanbul. Go to for more info. Click this link to see the most recent online abstracts of major genetics journals. Philippe Campeau


Posted by & filed under Meetings.

The 33rd SIMD Annual Meeting will take place in Albuquerque, New Mexico, March 28-April 1, 2010 Go to for more info. Philippe Campeau

Succinate dehydrogenase and leukoencephalopathy

Posted by & filed under Part 10: DISORDERS OF MITOCHONDRIAL FUNCTION, Part 28: NEUROGENETICS, _.

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 […]

Mitochondrial carrier and sideroblastic anemia

Posted by & filed under Part 10: DISORDERS OF MITOCHONDRIAL FUNCTION, Part 13: PORPHYRINS, Part 19: BLOOD, _.

Nat Genet. 2009 Jun;41(6):651-3. Epub 2009 May 3. Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia. Guernsey DL et al. These investigators form Nova Scotia describe a new form of sideroblastic anemia caused by a mutation in a mitochondrial carrier. The gene was identified by positional cloning. Click this […]

New cause of CoQ10 deficiency

Posted by & filed under Part 10: DISORDERS OF MITOCHONDRIAL FUNCTION, _.

Am J Hum Genet. 2009 May;84(5):558-66. Epub 2009 Apr 16. A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease. Duncan AJ et al. This group from the UK describes a new form of coQ10 deficiency, a potentially treatable condition. Click this link to see the […]

Cause of short stature in African Pygmies

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Molecular Genetics and Metabolism Article in Press The shortness of Pygmies is associated with severe under-expression of the Growth Hormone Receptor Mauro Bozzola et al. In this article, the authors observed a markedly reduced GHR gene expression in adult Pygmies, while the genetics cause for this remains to be uncovered. Click this link to see […]

MPS VI gene therapy pre-clinical model

Posted by & filed under Treatment, _.

Mol Genet Metab. 2009 Jun;97(2):102-8. Epub 2009 Feb 27. Lentiviral-mediated correction of MPS VI cells and gene transfer to joint tissues. Byers S, Rothe M, Lalic J, Koldej R, Anson DS. In this publication, the authors use a lentivirus to tranduce human fibroblasts and chondrocytes, as well as the synovial membrane and the fascia in […]


Posted by & filed under Meetings, _.

The ASHG 2009 meeting will take place on Tuesday, October 20 to Saturday, October 24, 2009 in Honolulu, Hawaii at the Hawaii Convention Center. See you there, Philippe Campeau