The official name of ALS2 gene is amyotrophic lateral sclerosis 2 (juvenile)..The ALS2 gene provides instructions for making a protein called alsin. Alsin is produced in a wide range of tissues, with highest amounts in the brain. It is particularly abundant in motor neurons, the specialized nerve cells in the brain and spinal cord that control the movement of muscles.
Alsin's function in cells is unclear. It may play a role in regulating cell membrane organization and the movement of molecules inside cells. Research findings also suggest that alsin may play a role in the development of axons and dendrites, which are specialized outgrowths from nerve cells that are essential for the transmission of nerve impulses.
Location:
ALS2 gene is present in human chromosome 2 and ts coded from region 202,273,521 to 202,353,982 with 34 exons, the cytogenetic location 2q33.2
Disease
Mutation in the ALS2 Gene causes Amyotrophic lateral Sclerosis(ALS),infantile-onset ascending hereditary spastic paralysis ,juvenile primary lateral sclerosis.In all three disease mutations delete a single DNA building block (nucleotide), which alters the instructions for producing alsin. As a result, alsin is unstable and decays rapidly.
Showing posts with label Amyotrophic Lateral Sclerosis. Show all posts
Showing posts with label Amyotrophic Lateral Sclerosis. Show all posts
Monday, December 15, 2008
Saturday, December 13, 2008
Stem cell therapy for ALS
Besides to the use of bone marrow stem cells for treating hemotological malignancies, which is an established chemical practice today. Bone marrow cells is also under intense investigation for regenerating various organs such as heart, liver and lung .This particular study that will taking about today is " possibly of using bone marrow cells in treating a disease ALS is investigated ALS is a lethal condition associate with the degenration of Motor Neurons in the spinal cord,Cerbral cortex and brainstem.
Actual cause of ALS is unknown. Although some ALS patients have a genetic mutation. Presently there is no cure for ALS The question of the study is.” whether bone marrow cells from healthy mice can inhibit the progression of disease in mouse model of ALS?"And subsequent question is do the stem cells cross the Blood-brain barrier? also total of such status canceled/what will attract with all possible way they for Mouse model which displays a predisposition and ALS like disease. The Mutated enzyme of human SOD1 ALS like carrying the GLY93 to alanine mutation is expressed in mouse, so that it mouse express pathology of Human ALS.Bonemarrow cells from the healthy mice are transferred to the mice with are predisposed to ALS.so the progress of ALS can be inhibited.
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