Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q
Article Abstract:
Proximal spinal muscular atrophy is characterized by the degeneration of cells of the spinal cord, which leads to paralysis of the limbs and trunk and to degeneration of the muscles. It is an inherited disorder which is recessive, meaning that it is necessary to inherit one gene from each parent to develop the disease. It is the second most common fatal recessive disorder after cystic fibrosis. There are three different clinical forms of childhood proximal spinal muscular atrophies: acute Werdnig-Hoffmann (type-I), which is the most common and severe form; intermediate Werdnig-Hoffmann (type-II); and Kugelberg-Welander disease (type-III). It has been difficult to study this disorder, as the genetic defect that causes the disease is not known and the gene responsible for the disease has not been characterized. It is not known, for example, if these different forms are due to defects in different genes or to the expression of different mutations within the same gene. Large family pedigrees are not available to study the genetic inheritance in type I disease; however, the genetic linkage of the chronic forms of type II and III were examined in 24 families. Analysis of this type is the first step in trying to identify a gene that is involved in the disease. The area of the chromosome that contains the defective gene in both types II and III was localized to the long arm chromosome 5. There was no evidence that other genes were involved, suggesting that same gene is affected in the two forms of the disorder. The localization of a defect to a particular site on the chromosome allows prenatal diagnosis in families that have a family history of the disorder. These studies can lead to the identification and characterization of the gene that is responsible for the defect, and hopefully to a treatment and even a cure for the disorders. (Consumer Summary produced by Reliance Medical Information, Inc.)
Publication Name: Nature
Subject: Zoology and wildlife conservation
ISSN: 0028-0836
Year: 1990
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Blindness and the X
Article Abstract:
A gene named retinitis pigmentosa GTPase regulator (RPGR) on the short arm of human chromosome X may be responsible for X-linked retinis pigmentosa (xlRP). A study reveals that the RP3 locus is closely tied to the RPGR in 70-90% of xlRP patients. A large chromosomal deletion in a patient reveals that another RP locus or an RPGR regulatory element may be responsible for the disease. The regulatory element is placed at an unprecedented length from the gene.
Publication Name: Nature
Subject: Zoology and wildlife conservation
ISSN: 0028-0836
Year: 1996
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Synergistic anti-apoptotic activity between Bcl-2 and SMN implicated in spinal muscular atrophy
Article Abstract:
Research demonstrates that the SMN gene expressed in the motor neurone disease spinal muscular atrophy is co-expressed with the anti-apoptotic protein Bcl-2. The co-expression suppresses Bax-induced or Fas-mediated apoptosis. Evidence from genetic mutation experiments suggests that reduced SMN activity results in the onset of SMA. Co-immunoprecipitation results featuring human Bcl-2 and SMN are shown.
Publication Name: Nature
Subject: Zoology and wildlife conservation
ISSN: 0028-0836
Year: 1997
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