Annexins in Niemann-Pick type C disease
Buszewska, M.łg.E.; Strzelecka-Kiliszek, A.; Tylki-Szymańska, A.; Bandorowicz-Pikuła, J.
Postepy Biochemii 53(2): 169-173
2007
ISSN/ISBN: 0032-5422 PMID: 17969878 Document Number: 608795
Niemann-Pick disease is a genetic disorder, affecting approximately 1 to 150,000 living births per year; in Poland 1-5 cases. Usually diagnosed in the childhood, Niemann-Pick disease results in death in the teenage years. Niemann-Pick disease is defined as a lysosomal storage disorder and is related to impaired transport and/or accumulation of specific lipids inside the cell. In this report, we provide evidence about potential role of annexins, calcium- and membrane-binding proteins, in the formation and stabilization of cholesterol-rich microdomains and their possible function in organizing the membranes of early and late endosomes, organelles affected in the type C Niemann-Pick disease characterized by abnormal accumulation of cholesterol and glycosphingolipids in lysosomal like organelles.