کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2175624 1093847 2006 10 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Basis of lethality in C. elegans lacking CUP-5, the Mucolipidosis Type IV orthologue
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی بیولوژی سلول
پیش نمایش صفحه اول مقاله
Basis of lethality in C. elegans lacking CUP-5, the Mucolipidosis Type IV orthologue
چکیده انگلیسی

Mutations in MCOLN1, which encodes the protein h-mucolipin-1, result in the lysosomal storage disease Mucolipidosis Type IV. Studies on CUP-5, the human orthologue of h-mucolipin-1 in Caenorhabditis elegans, have shown that these proteins are required for lysosome biogenesis. We show here that the lethality in cup-5 mutant worms is due to two defects, starvation of embryonic cells and general developmental defects. Starvation leads to apoptosis through a CED-3-mediated pathway. We also show that providing worms with a lipid-soluble metabolite partially rescues the embryonic lethality but has no effect on the developmental defects, the major cause of the lethality. These results indicate that supplementing the metabolic deficiency of Mucolipidosis Type IV patients may not be sufficient to alleviate the symptoms due to tissue degeneration.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Developmental Biology - Volume 293, Issue 2, 15 May 2006, Pages 382–391
نویسندگان
, , ,