Krabbe Disease
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What is Krabbe disease?Krabbe disease is a degenerative disorder that affects the nervous system. It is caused by the shortage (deficiency) of an enzyme called galactosylceramidase (GALC). This enzyme deficiency results in defective myelin, the covering that insulates many nerves. Krabbe disease is considered part of a group of disorders known as leukodystrophies, which result from the imperfect growth and development of myelin. Krabbe disease usually begins before the age of 1 year (early-onset form). Initial signs and symptoms often include feeding difficulties, episodes of unexplained fever, stiff posture, and developmental delay. As the disease progresses, muscles continue to weaken, affecting the infant's ability to move, chew, swallow, and breathe. Affected infants also experience vision loss and mental retardation. Less commonly, onset can occur in later in childhood, adolescence, or adulthood (late-onset form). How common is Krabbe disease?Worldwide, Krabbe disease occurs in about 1 in 100,000 to 200,000 births. A higher incidence (6 cases per 1,000 live births) has been reported in a few isolated communities in Israel. What genes are related to Krabbe disease?Mutations in the GALC gene cause Krabbe disease. Mutations in the GALC gene cause a deficiency of the enzyme galactosylceramidase. This deficiency leads to a progressive loss of myelin that covers many nerves. Without myelin, nerves in the brain and other parts of the body cannot function properly, leading to the signs and symptoms of Krabbe disease. How do people inherit Krabbe disease?This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Parents of an individual with this autosomal recessive disorder are carriers of 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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Reports on Gene Therapy findings from K.A. Terrell and co-researchers provide new insights
2007 SEP 3 -- According to recent research from the United States, "Rapid and accurate genotype determination is ideal for the maintenance of breeding colonies of laboratory animal models of genetic disease. The rhesus macaque and murine (twitcher) models of globoid cell leukodystrophy have a dinucleotide deletion or single nucleotide substitution, respectively, which abolish ceramide beta-galactosidase activity and are authentic models of Krabbe disease." "We report a molecular beacon PCR assay for each species which allows unambiguous determination of the genotype in under 4 h. The assay works reliably with DNA extracted from hair roots using Chelex-100((R)) in a 20 min, 100 degrees C incubation. We demonstrate that genotyping from hair roots is a preferred alternative to collecting blood or tissue for DNA extraction because it reduces animal distress, uses an inexpensive reagent, and is simpler and faster. Following amplification on a standard thermocycler with a 96-well plate format, these molecular beacon assays can be read on a standard laboratory fluorescent plate reader, eliminating the need to use a real-time thermocycler or to open the plate for subsequent restriction enzyme digestion and gel electrophoresis," wrote K.A. Terrell and colleagues. The researchers concluded: "The multiplexed ratio of fluorescence from wild-type- and mutant-specific beacons reporting at 560 nm and 535 nm wavelengths is distinct for each genotype." Terrell and colleagues published their study in the Journal of Neuroscience Methods (Molecular beacon genotyping for globoid cell leukodystrophy from hair roots in the twitcher mouse and rhesus macaque. Journal of Neuroscience Methods, 2007;163(1):60-66). For additional information, contact W.R. Buck, Tulane National Primate Research Center, Division Comparative Pathology, 18703 3 Rivers Rd., Covington, LA 70433, USA. Publisher contact information for the Journal of Neuroscience Methods is: Elsevier Science BV, PO Box 211, 1000 AE Amsterdam, Netherlands. Keywords: United States, Covington, Biotechnology, Gene Therapy, Genetics, Genomics, Genotyping, Globoid Cell Leukodystrophy, Krabbe Disease, Neuroscience. This article was prepared by Pain & Central Nervous System Week editors from staff and other reports. Copyright 2007, Pain & Central Nervous System Week via NewsRx.com.
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