A lethal defect of mitochondrial and peroxisomal fission

• June 24th, 2007

N Engl J Med. 2007 Apr 26;356(17):1707-9.

A lethal defect of mitochondrial and peroxisomal fission.

Waterham HR, Koster J, van Roermund CW, Mooyer PA, Wanders RJ, Leonard JV.

girl with microcephaly, abnormal brain development, optic atrophy and hypoplasia. Biochemical analyses revealed lactic acidosis and an increase in very-long-chain fatty acids.

Because the peroxisomes and mitochondria in fibroblasts from the patient were similar to those in cells overexpressing dominant negative mutant DLP1, they sequenced this gene in their patient and found mutations.

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

Primary hyperoxaluria mouse model and gene therapy.

• January 21st, 2007

Primary hyperoxaluria mouse model and gene therapy.
Proc Natl Acad Sci U S A. 2006 Nov 28;103(48):18249-54.

Alanine-glyoxylate aminotransferase-deficient mice, a model for primary
hyperoxaluria that responds to adenoviral gene transfer.

Salido EC, Li XM, Lu Y, Wang X, Santana A, Roy-Chowdhury N, Torres A, Shapiro
LJ, Roy-Chowdhury J.
In this important PNAS paper, the authors describe the creation of a mouse model for primary hyperoxaluria type 1. They also provide a proof of concept for liver directed gene therapy of primary hyperoxaluria using an adenoviral vector. However, I would have liked to see if the vector-treated mice were protected against ethylene glycol induced nephrocalcinosis.

For more information on primary hyperoxaluria, you can refer to chapter 133 of OMMBID.

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

New peroxisomal beta-oxidation defect

• May 7th, 2006

Mutations in the Gene Encoding Peroxisomal Sterol Carrier Protein X (SCPx) Cause Leukencephalopathy with Dystonia and Motor Neuropathy

S. Ferdinandusse et al.

Am. J. Hum. Genet., 78:1046-1052, 2006

This group describes a patient with a deficiency of sterol carrier protein X (SCPx), a peroxisomal enzyme with thiolase activity, which is required for the breakdown of branched-chain fatty acids.

For more information on Single Peroxisomal Enzyme Deficiencies, please see OMMBID Chapter 130.

Thank you very much for your contribution to this blog.

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