Posts Categorized: Part 15: PEROXISOMES



Heimler Syndrome: a mild peroxisome biogenesis disorder

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Peroxisome biogenesis disorders are generally considered to be severe multisystem disorders, often with a progressive component. However, Ratbi et al, in the recent edition of American Journal of Human Genetics (2015 (97): 535-545) report that Heimler Syndrome, a disorder of hearing loss, abnormal dentition and nails, with or without retinitis pigmentosa, is due to hypomorphic […]



Oxidative stress and X-linked ALD

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X-linked adrenoleukodystrophy (X-ALD), caused by a mutation in ABCD1, leads to an accumulation of long-chain fatty acids. However, the mechanism by which this accumulation causes disease is not yet understood.  One of the potential factors thought to contribute to disease is oxidative stress and subsequent free-radical damage. Petrillo et al (Molecular Genetics and Metabolism, 109 (4): 366–370) offers further evidence […]



A lethal defect of mitochondrial and peroxisomal fission

Posted by & filed under Part 10: DISORDERS OF MITOCHONDRIAL FUNCTION, Part 15: PEROXISOMES.

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 […]



Primary hyperoxaluria mouse model and gene therapy.

Posted by & filed under Part 15: PEROXISOMES, Treatment.

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 […]



New peroxisomal beta-oxidation defect

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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 […]