Therapeutic options in prevention and treatment of aspartoacylase gene mutation resulting abnormalities in Canavan disease

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

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

Canavan disease (CD) is an autosomal recessive disorder, caused by mutations in the aspartoacylase gene resulting enzyme deficiency. Patients with CD have accumulation of NAAG and NAA in the brain resulting elevated urinary NAAG and NAA. Aspartoacylase gene mutation in the mouse led to multiple genomic abnormalities. Pathophysiological processes implicated in CD include spongy degeneration of the brain possibly by the abnormal genes expression/metabolic levels of NAAG, NAA, aspartate, glutamate, glutamate transporter-EAAT4, GABA receptor-GABRA6 and GABA. In addition, high expression of cell death inducing agents includes serine proteinase inhibitor 2, caspase 11 and interleukin 1-beta. Osteoporosis is also an important consequence in the CD mouse. Each of these pathways offers potential therapeutic targets and pharmacological manipulation.

Original languageEnglish (US)
Pages (from-to)13-20
Number of pages8
JournalCurrent Pharmacogenomics
Volume2
Issue number1
DOIs
StatePublished - Mar 2004

Fingerprint

Canavan Disease
Mutation
Genes
Multiple Abnormalities
Amino Acid Transport System X-AG
Therapeutics
Caspase 1
Serine Proteinase Inhibitors
GABA Receptors
Interleukin-1beta
Aspartic Acid
gamma-Aminobutyric Acid
Osteoporosis
Glutamic Acid
Cell Death
aspartoacylase
Pharmacology
Gene Expression
Brain
Enzymes

Keywords

  • AST
  • Canavan disease
  • EAAT4
  • GABA
  • GABRA6
  • Glutamate

ASJC Scopus subject areas

  • Pharmacology
  • Genetics

Cite this

Therapeutic options in prevention and treatment of aspartoacylase gene mutation resulting abnormalities in Canavan disease. / Surendran, Sankar; Tyring, Stephen K.; Michals-Matalon, Kimberlee; Matalon, Reuben.

In: Current Pharmacogenomics, Vol. 2, No. 1, 03.2004, p. 13-20.

Research output: Contribution to journalArticle

Surendran, Sankar ; Tyring, Stephen K. ; Michals-Matalon, Kimberlee ; Matalon, Reuben. / Therapeutic options in prevention and treatment of aspartoacylase gene mutation resulting abnormalities in Canavan disease. In: Current Pharmacogenomics. 2004 ; Vol. 2, No. 1. pp. 13-20.
@article{5d248962f28c461ea62cc87f3d103d9f,
title = "Therapeutic options in prevention and treatment of aspartoacylase gene mutation resulting abnormalities in Canavan disease",
abstract = "Canavan disease (CD) is an autosomal recessive disorder, caused by mutations in the aspartoacylase gene resulting enzyme deficiency. Patients with CD have accumulation of NAAG and NAA in the brain resulting elevated urinary NAAG and NAA. Aspartoacylase gene mutation in the mouse led to multiple genomic abnormalities. Pathophysiological processes implicated in CD include spongy degeneration of the brain possibly by the abnormal genes expression/metabolic levels of NAAG, NAA, aspartate, glutamate, glutamate transporter-EAAT4, GABA receptor-GABRA6 and GABA. In addition, high expression of cell death inducing agents includes serine proteinase inhibitor 2, caspase 11 and interleukin 1-beta. Osteoporosis is also an important consequence in the CD mouse. Each of these pathways offers potential therapeutic targets and pharmacological manipulation.",
keywords = "AST, Canavan disease, EAAT4, GABA, GABRA6, Glutamate",
author = "Sankar Surendran and Tyring, {Stephen K.} and Kimberlee Michals-Matalon and Reuben Matalon",
year = "2004",
month = "3",
doi = "10.2174/1570160043476141",
language = "English (US)",
volume = "2",
pages = "13--20",
journal = "Current Pharmacogenomics",
issn = "1570-1603",
publisher = "Bentham Science Publishers B.V.",
number = "1",

}

TY - JOUR

T1 - Therapeutic options in prevention and treatment of aspartoacylase gene mutation resulting abnormalities in Canavan disease

AU - Surendran, Sankar

AU - Tyring, Stephen K.

AU - Michals-Matalon, Kimberlee

AU - Matalon, Reuben

PY - 2004/3

Y1 - 2004/3

N2 - Canavan disease (CD) is an autosomal recessive disorder, caused by mutations in the aspartoacylase gene resulting enzyme deficiency. Patients with CD have accumulation of NAAG and NAA in the brain resulting elevated urinary NAAG and NAA. Aspartoacylase gene mutation in the mouse led to multiple genomic abnormalities. Pathophysiological processes implicated in CD include spongy degeneration of the brain possibly by the abnormal genes expression/metabolic levels of NAAG, NAA, aspartate, glutamate, glutamate transporter-EAAT4, GABA receptor-GABRA6 and GABA. In addition, high expression of cell death inducing agents includes serine proteinase inhibitor 2, caspase 11 and interleukin 1-beta. Osteoporosis is also an important consequence in the CD mouse. Each of these pathways offers potential therapeutic targets and pharmacological manipulation.

AB - Canavan disease (CD) is an autosomal recessive disorder, caused by mutations in the aspartoacylase gene resulting enzyme deficiency. Patients with CD have accumulation of NAAG and NAA in the brain resulting elevated urinary NAAG and NAA. Aspartoacylase gene mutation in the mouse led to multiple genomic abnormalities. Pathophysiological processes implicated in CD include spongy degeneration of the brain possibly by the abnormal genes expression/metabolic levels of NAAG, NAA, aspartate, glutamate, glutamate transporter-EAAT4, GABA receptor-GABRA6 and GABA. In addition, high expression of cell death inducing agents includes serine proteinase inhibitor 2, caspase 11 and interleukin 1-beta. Osteoporosis is also an important consequence in the CD mouse. Each of these pathways offers potential therapeutic targets and pharmacological manipulation.

KW - AST

KW - Canavan disease

KW - EAAT4

KW - GABA

KW - GABRA6

KW - Glutamate

UR - http://www.scopus.com/inward/record.url?scp=3042720191&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=3042720191&partnerID=8YFLogxK

U2 - 10.2174/1570160043476141

DO - 10.2174/1570160043476141

M3 - Article

VL - 2

SP - 13

EP - 20

JO - Current Pharmacogenomics

JF - Current Pharmacogenomics

SN - 1570-1603

IS - 1

ER -