Canavan Disease
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What is Canavan disease?
Canavan disease is an inherited disorder that causes progressive damage to nerve cells in the brain. This disease is one of a group of genetic disorders called leukodystrophies. Leukodystrophies are characterized by degeneration of myelin, which is the fatty covering that insulates nerve fibers.
The signs and symptoms of this disease usually begin in early infancy; however, the course of the condition can be quite variable. Infants with Canavan disease typically appear normal for the first few months of life. By 3 to 5 months of age, affected infants begin having problems with development including a delay in motor skills such as turning over and sitting. These infants typically also have weak muscle tone (hypotonia), increased head size (macrocephaly), abnormal posture, and mental retardation. Feeding and swallowing difficulties, seizures, and sleep disturbances may also develop.
How common is Canavan disease?
This disorder occurs in 1 in 6,400 to 13,500 people of Ashkenazi (eastern and central European) Jewish heritage. Although it is more common in this population, the condition is seen in people of all ethnic backgrounds. The incidence in other populations is unknown.
What genes are related to Canavan disease?
Mutations in the ASPA gene cause Canavan disease.
The ASPA gene makes an enzyme called aspartoacylase. This enzyme normally breaks down a compound called N-acetyl-L-aspartic acid (NAA), which is predominantly found in nerve cells in the brain. Mutations in the ASPA gene prevent the breakdown of NAA, allowing this substance to accumulate to toxic levels in these cells. A buildup of NAA leads to the destruction of myelin, the covering that normally insulates and protects nerve cells. As a result, the exposed nerve fibers deteriorate, causing the serious signs and symptoms of Canavan disease.
How do people inherit Canavan disease?
This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder each carry one copy of the altered gene but do not show signs and symptoms of the disorder.
Source: National Institutes of Health
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Research from University Federal do Rio Grande do Sul in the area of life sciences described
2009 MAY 25 - (NewsRx.com) -- New investigation results, 'Intracerebroventricular administration of N-acetylaspartic acid impairs antioxidant defenses and promotes protein oxidation in cerebral cortex of rats,' are detailed in a study published in Metabolic Brain Disease. "N-acetylaspartic acid (NAA) is the biochemical hallmark of Canavan Disease, an inherited metabolic disease caused by deficiency of aspartoacylase activity. NAA is an immediate precursor for the enzyme-mediated biosynthesis of N-acetylaspartylglutamic acid (NAAG), whose concentration is also increased in urine and cerebrospinal fluid of patients affected by CD," scientists writing in the journal Metabolic Brain Disease report. "This neurodegenerative disorder is clinically characterized by severe mental retardation, hypotonia and macrocephaly, and generalized tonic and clonic type seizures. Considering that the mechanisms of brain damage in this disease remain not fully understood, in the present study we investigated whether intracerebroventricular administration of NAA or NAAG elicits oxidative stress in cerebral cortex of 30-day-old rats. NAA significantly reduced total radical-trapping antioxidant potential, catalase and glucose 6-phosphate dehydrogenase activities, whereas protein carbonyl content and superoxide dismutase activity were significantly enhanced. Lipid peroxidation indices and glutathione peroxidase activity were not affected by NAA. In contrast, NAAG did not alter any of the oxidative stress parameters tested," wrote C.D. Pederzolli and colleagues, University Federal do Rio Grande do Sul. The researchers concluded: "Our results indicate that intracerebroventricular administration of NAA impairs antioxidant defenses and induces oxidative damage to proteins, which could be involved in the neurotoxicity of NAA accumulation in CD patients." Pederzolli and colleagues published their study in Metabolic Brain Disease (Intracerebroventricular administration of N-acetylaspartic acid impairs antioxidant defenses and promotes protein oxidation in cerebral cortex of rats. Metabolic Brain Disease, 2009;24(2):283-98). Additional information can be obtained by contacting C.D. Pederzolli, Universidade Federal do Rio Grande do Sul, Programa de Pos-Graduacao em Ciencias Biologicas: Bioquimica, Instituto de Ciencias Basicas da Saude, RS, Brasil. The publisher of the journal Metabolic Brain Disease can be contacted at: Springer, 233 Spring Street, New York, NY 10013, USA. Keywords: Brazil, Brasil, Life Sciences, Developmental Disabilities, Mental Retardation, Mental Health, Neurodegenerative, Brain Disease, Metabolic Brain Disease, Metabolic Disease, Canavan Disease, Seizures, Treatment, Therapy, Inherited Metabolic Disease, Biochemical. This article was prepared by Pain & Central Nervous System Week editors from staff and other reports. Copyright 2009, Pain & Central Nervous System Week via NewsRx.com.
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