The role of neuraminidase-1 in muscle development

• Grant number: 09/16134-0
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: March 01, 2010
• End date: February 28, 2011
• Field of knowledge: Health Sciences - Medicine
• Principal Investigator: Edmar Zanoteli
• Grantee: Geiza de Lima Oliveira Xavier
• Host Institution: Faculdade de Medicina (FM). Universidade de São Paulo (USP). São Paulo , SP, Brazil

Abstract

Neuraminidase-1 (Neu1) regulates the catabolism of sialoglycoconjugates in lysosomes. Congenital Neu1 deficiency in children is the basis of sialidosis, a neurosomatic disorder whose symptoms include hypotonia, muscle weakness and osteoskeletal deformities. Mice with Neu1 deficiency develop an atypical form of muscle degeneration characterized by abnormal fibroblast proliferation and expanded extra cellular matrix (ECM), with invasion of muscle fibers by ECM components, cytosolic fragmentation, vacuolar formation and muscle atrophy. The aim of this study is to investigate the role of Neu1 on muscle development. Experimentally, Neu1 deficient myoblasts will be assessed in vitro for proliferative, fusion and differentiation capacity. The determination of Neu1 role on muscle physiology will be the great value to understand the neuromuscular clinical manifestations reported in patients with Neu1 deficiency and the importance of lysosomes and the sialic acid metabolism on the physiopathogeneses of muscle diseases.