Correlation between severity and SMN protein level in spinal muscular atrophy.
Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder characterized by degeneration of motor neurons of the spinal cord. Three different forms of childhood SMA have been recognized on the basis of age at onset and clinical course: Werdnig-Hoffmann disease (type-1), the intermediate form (type-II) and Kugelberg-Welander disease (type-III). A gene termed 'survival of motor neuron' (SMN) has been recognized as the disease-causing gene in SMA. SMN encodes a protein located within a novel nuclear structure and interacts with RNA-binding proteins. To elucidate the molecular mechanism underlying the pathogenesis of the disease, we examined the expression of the SMN gene in both controls and SMA patients by western blot and immunohistochemical analyses using antibodies raised against the SMN protein. The present study shows a marked deficiency of the SMN protein in SMA.
Lefebvre
S
S
Unité de Recherches sur les Handicaps Génétiques de L'Enfant, INSERM, Unité 393, IFREM, Institut Necker, Hôpital des Enfants Malades, Paris, France.
Burlet
P
P
Liu
Q
Q
Bertrandy
S
S
Clermont
O
O
Munnich
A
A
Dreyfuss
G
G
Melki
J
J
D015153:Blotting, Western; D002460:Cell Line; D017362:Cyclic AMP Response Element-Binding Protein; D005786:Gene Expression Regulation; D006801:Humans; D008099:Liver / Q000196:embryology / Q000378:metabolism; D009134:Muscular Atrophy, Spinal / Q000196:embryology / Q000235:genetics* / Q000378:metabolism*; D009419:Nerve Tissue Proteins / Q000235:genetics / Q000378:metabolism*; D051616:Neuronal Apoptosis-Inhibitory Protein; D017354:Point Mutation; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins; D017384:Sequence Deletion; D013116:Spinal Cord / Q000196:embryology / Q000378:metabolism
D017362:Cyclic AMP Response Element-Binding Protein; C496800:NAIP protein, human; D009419:Nerve Tissue Proteins; D051616:Neuronal Apoptosis-Inhibitory Protein; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins