Batten Disease
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Research from S. Codlin and co-researchers in the area of enzyme research published
2009 JUN 8 - (NewsRx.com) -- "Batten disease is characterised by lysosomal dysfunction. The most common type of the disease is caused by mutations in the membrane protein CLN3, whose function is unknown," investigators in London, the United Kingdom report. "We show that the fission yeast orthologue Btn1p, previously implicated in vacuole function, is required for correct sorting of the vacuole hydrolase carboxypeptidase Y (Cpy1p). This is, in part, due to a defect in trafficking of Vps10p, the sorting receptor for Cpy1p, from the Golgi to the trans-Golgi network in btn1 Delta cells. Our data also implicate btn1 in other Vps10-independent Cpy1-sorting pathways. Furthermore, btn1 affects the number, intracellular location and structure of Golgi compartments. We show that the prevacuole location of Btn1p is at the Golgi, because Btn1p colocalises predominantly with the Golgi marker Gms1p in compartments that are sensitive to Brefeldin A. Btn1p function might be linked to that of Vps34p, a phosphatidylinositol 3-kinase, because Btn1p acts as a multicopy suppressor of the severe Cpy1p vacuole protein-sorting defect of vps34 Delta cells. Together, these results indicate an important role for Btn1p in the Golgi complex, which affects Golgi homeostasis and vacuole protein sorting," wrote S. Codlin and colleagues. The researchers concluded: "We propose a similar role for CLN3 in mammalian cells." Codlin and colleagues published their study in the Journal of Cell Science (S. pombe btn1, the orthologue of the Batten disease gene CLN3, is required for vacuole protein sorting of Cpy1p and Golgi exit of Vps10p. Journal of Cell Science, 2009;122(8):1163-1173). For additional information, contact S.E. Mole, UCL, MRC, Molecular Cell Biology Laboratory, Mortimer St., London WC1E 6BT, UK. The publisher of the Journal of Cell Science can be contacted at: Company of Biologists Ltd., Bidder Building Cambridge Commercial Park Cowley Rd., Cambridge CB4 4DL, Cambs, England. Keywords: United Kingdom, London, Batten Disease, Carboxypeptidase, Cell Science, Enzyme Research, Hydrolase, Mental Health, Neurodegenerative, Neuronal Ceroid Lipofuscinoses, Neuronal Ceroid-Lipofuscinosis. 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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