Journal Article

The Role of the <i>SMN</i> Gene in Proximal Spinal Muscular Atrophy

Suzie Lefebvre, Lydie Bürglen, Jean Frézal, Arnold Munnich and Judith Melki

in Human Molecular Genetics

Volume 7, issue 10, pages 1531-1536
Published in print September 1998 | ISSN: 0964-6906
Published online September 1998 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/7.10.1531
The Role of the SMN Gene in Proximal Spinal Muscular Atrophy

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Childhood spinal muscular atrophy (SMA) is a common recessive autosomal disorder that results in degeneration of lower motor neurons. The identification of the disease gene, Survival of Motor Neuron (SMN), was a major advance in understanding the molecular basis underlying this devastating neuromuscular disease. This finding has greatly improved the genetic counselling of SMA families. Recently, biochemical studies demonstrated its involvement in the biogenesis of spliceosomal snRNPs, suggesting a critical role of SMN in RNA processing. Surprisingly, other studies showed a putative role of SMN in an anti-apoptotic pathway involving Bcl-2. The function of SMN protein is not fully understood. These observations emphasized the difficulty in elucidating the function of any novel protein. Therefore, multidisciplinary approaches are required to understand the pathogenesis of SMA.

Journal Article.  5415 words.  Illustrated.

Subjects: Genetics and Genomics

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