Bezafibrate for Sjögren-Larsson syndrome

• September 27th, 2006

Sjögren-Larsson syndrome presents with ichtyosis, spastic diplegia and cognitive deficits. It is caused by a deficiency of fatty aldehyde dehydrogenase. Treatments are limited to symptomatic therapies; for example, ziluteon (an inhibitor of 5-lipoxygenase) can reduce pruritus.

In a recent article, bezafibrate has been shown to induce the expression of the deficient protein in fibroblasts from some patients. This discovery could become of clinical importance.
Mol Genet Metab. 2006 September - October;89(1-2):111-115.

Bezafibrate induces FALDH in human fibroblasts; implications for Sjogren-Larsson syndrome.

Gloerich J, Ijlst L, Wanders RJ, Ferdinandusse S.

For an excellent review of Sjögren-Larsson syndrome, see this article in which we learn that a knockout mouse has been created for this condition :

Mol Genet Metab. 2006 Sep 20;

Sjogren-Larsson syndrome: Molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency.

Rizzo WB.

Thank you very much in advance for your contributions to this blog (Click on login to register and post a message).

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

Microdeletion 17q21.31 syndrome

• September 5th, 2006

In the September 2006 issue of Nature Genetics, three groups identify a new microdeletion syndrome (microdeletion 17q21.31). The major clinical features of this syndrome are severe hypotonia and moderate mental retardation
See the News and Views article by James R. Lupski:

Nat Genet. 2006 Sep;38(9):974-6.

Genome structural variation and sporadic disease traits.

Lupski JR.

James R. Lupski is in the Department of Molecular and Human Genetics and the
Department of Pediatrics, Baylor College of Medicine and Texas Children’s
Hospital, Houston, Texas, USA.
See also the artcles by Koolen DA et al., Shaw-Smith C et al. and Sharp J et al.

Thank you very much in advance for your contributions to this blog (Click on login to register and post a message).

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

• September 5th, 2006

Nat Genet. 2003 Jun;34(2):157-65.

Transcription of antisense RNA leading to gene silencing and methylation as a
novel cause of human genetic disease.

Tufarelli C, Stanley JA, Garrick D, Sharpe JA, Ayyub H, Wood WG, Higgs DR.

In this article, Tufarelli and colleagues describe a new genetic mechanism of human disease, in a patient with alpha-thalassemia. A deletion in a nearby gene, LUC7L, causes antisense mediated cis-acting methylation and silencing of the HBA2 gene.

For more information on the epigenetic silencing of genes, please see chapter 18.1

For more information on thalassemia, please see chapter 181.
Thank you very much in advance for your contributions to this blog (Click on login to register and post a message).

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