The Role of the SMN Gene in Proximal Spinal Muscular Atrophy (original) (raw)

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Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U393, IFREM, Institut Necker, Hôpital des Enfants Malades

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149 rue de Sèvres, 75743 Paris cedex 15, France

*To whom correspondence should be addressed. Tel: +33 1 44 49 51 63; Fax: +33 1 47 34 85 14; Email: lefebvre@necker.fr

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Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U393, IFREM, Institut Necker, Hôpital des Enfants Malades

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149 rue de Sèvres, 75743 Paris cedex 15, France

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Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U393, IFREM, Institut Necker, Hôpital des Enfants Malades

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149 rue de Sèvres, 75743 Paris cedex 15, France

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Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U393, IFREM, Institut Necker, Hôpital des Enfants Malades

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149 rue de Sèvres, 75743 Paris cedex 15, France

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Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM, CNRS

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BP163, 67404 Illkirch cedex, CU de Strasbourg, France

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Published:

01 September 1998

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Suzie Lefebvre, Lydie Bürglen, Jean Frézal, Arnold Munnich, Judith Melki, The Role of the SMN Gene in Proximal Spinal Muscular Atrophy, Human Molecular Genetics, Volume 7, Issue 10, September 1998, Pages 1531–1536, https://doi.org/10.1093/hmg/7.10.1531
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Abstract

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.

© 1998 Oxford University Press

Topic:

• neuromuscular diseases
• origin of life
• genes
• bcl2 gene
• motor neurons
• spinal muscular atrophy
• smn1 protein
• tissue degeneration

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