Canavan disease: studies on the knockout mouse.

Reuben Matalon; Kimberlee Michals-Matalon; Sankar Surendran; Stephen K Tyring

doi:10.1007/0-387-30172-0_6

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Canavan disease: studies on the knockout mouse.

Reuben Matalon·Kimberlee Michals-Matalon·Sankar Surendran·Stephen K Tyring

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Abstract

Canavan disease (CD) is an autosomal recessive disorder, characterized by spongy degeneration of the brain. Patients with CD have aspartoacylase (ASPA) deficiency, which results accumulation of N-acetylaspartic acid (NAA) in the brain and elevated excretion of urinary NAA. Clinically, patients with CD have macrocephaly, mental retardation and hypotonia. A knockout mouse for CD which was engineered, also has ASPA deficiency and elevated NAA. Molecular studies of the mouse brain showed abnormal expression of multiple genes in addition to ASPA deficiency. Adenoassociated virus mediated gene transfer and stem cell therapy in the knockout mouse are the latest attempts to alter pathophysiology in the CD mouse.

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Amidohydrolases Animals Canavan Disease Dipeptides Gene Targeting Genetic Therapy Glutamic Acid Humans Mice Mice, Knockout Phenotype Stem Cell Transplantation gamma-Aminobutyric Acid Journal Article Review

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Reuben Matalon, Kimberlee Michals-Matalon, Sankar Surendran, Stephen K Tyring. 2006. Canavan disease: studies on the knockout mouse.. https://doi.org/10.1007/0-387-30172-0_6

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