engleski

Abnormal polysialylation in spinal muscular atrophy: Clues for possible new role of the survival motor neuron protein

Spinal muscular atrophy (SMA) is a common autosomal recessive disease characterized by the loss of spinal motor neurons that result from mutations in the Survival of Motor Neuron (SMN) gene. The function of SMN gene is largely unknown. Although involved in pre-mRNA splicing and spliceosomal snRNP biogenesis, this regulatory function cannot explain why only specific neuronal populations in spinal cord, brainstem and dorsal root ganglia degenerate in SMA patients, while other cell types remain unaffected. One of the major neuropathological hallmarks of acute SMA (SMA1) is a failure of lower motoneurons to synapse homophylically with axons of the upper motor neurons, resulting in their abnormal migration towards anterior spinal roots. Since the sugar components of glycoconjugates of cell membranes are responsible for cell adhesion and recognition processes which play a key role during migration, in a pilot study we tried to assess the post-translational modifications of neuronal cell adhesion molecule (NCAM) and other proteins due to glycosylation in the brain tissue from patients with SMA1, normal age-matched and adult controls. Preliminary results and plans for future research were presented and discussed.

neural cell adhesion molecules; neuronal migration; spinal muscular atrophy

220 ALIS-British Council