Splicing of the Survival Motor Neuron genes and implications for treatment of SMA

• Published in: Frontiers in bioscience (Landmark. Print) Vol. 15; no. 3; p. 1191
• Main Authors: Bebee, Thomas W, Gladman, Jordan T, Chandler, Dawn S
• Format: Journal Article
• Language: English
• Published: Singapore 01.06.2010
• Subjects: Animals; Disease Models, Animal; Exons - genetics; Humans; Muscular Atrophy, Spinal - genetics; Muscular Atrophy, Spinal - metabolism; Muscular Atrophy, Spinal - therapy; Mutation; RNA Precursors - genetics; RNA Precursors - metabolism; RNA Splicing; Survival of Motor Neuron 1 Protein - genetics; Survival of Motor Neuron 1 Protein - metabolism; Survival of Motor Neuron 2 Protein - genetics; Survival of Motor Neuron 2 Protein - metabolism

Proximal spinal muscular atrophy (SMA) is a neuromuscular disease caused by low levels of the survival motor neuron (SMN) protein. The reduced SMN levels are due to loss of the survival motor neuron-1 (SMN1) gene. Humans carry a nearly identical SMN2 gene that generates a truncated protein, due to a...