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

Canavan disease: Studies on the knockout mouse

Reuben Matalon, Kimberlee Michals-Matalon, Sankar Surendran, Stephen K. Tyring

Pediatrics

Research output: Chapter in Book/Report/Conference proceeding › Conference contribution

6 Scopus citations

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.

Original language	English (US)
Title of host publication	N-Acetylaspartate
Subtitle of host publication	A Unique Neuronal Molecule in the Central Nervous System
Publisher	Springer New York
Pages	77-93
Number of pages	17
ISBN (Print)	9780387301716
DOIs	https://doi.org/10.1007/0-387-30172-0_6
State	Published - 2006

Publication series

Name	Advances in Experimental Medicine and Biology
Volume	576
ISSN (Print)	0065-2598

ASJC Scopus subject areas

General Biochemistry, Genetics and Molecular Biology

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10.1007/0-387-30172-0_6

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Canavan disease: Studies on the knockout mouse. / Matalon, Reuben; Michals-Matalon, Kimberlee; Surendran, Sankar et al.
N-Acetylaspartate: A Unique Neuronal Molecule in the Central Nervous System. Springer New York, 2006. p. 77-93 (Advances in Experimental Medicine and Biology; Vol. 576).

Research output: Chapter in Book/Report/Conference proceeding › Conference contribution

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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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AB - 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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Canavan disease: Studies on the knockout mouse

Abstract

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