title: [Molecular genetic basis of proximal spinal muscular atrophy and experience in its pharmaceutical treatment].
abstract: The review considers the original and published data on the molecular genetic basis of proximal spinal muscular atrophy (SMA), the most common monogenic neuromuscular disease. The structures of the SMN1 gene and SMN2 pseudogene, mutations distorting the SMN1 function, the structure and functions of the Smn neurotrophic protein, its role in biogenesis of small nuclear ribonucleoproteins (snRNPs), and the principles and prdblems of molecular diagnosis in SMA are described. Special consideration is given to the current approaches and prospects of gene and cell therapy of SMA, pharmacogenetic methods to correct the SMN2 function, and original results of long-term treatment of SMA patients with valproic acid drugs.
authors.forename: V S
authors.initials: VS
authors.lastname: Baranov
authors.forename: A V
authors.initials: AV
authors.lastname: Kiselev
authors.forename: V G
authors.initials: VG
authors.lastname: Vakharlovskiĭ
authors.forename: G Iu
authors.initials: GIu
authors.lastname: Zhelezniakova
authors.forename: V N
authors.initials: VN
authors.lastname: Komantsev
authors.forename: O V
authors.initials: OV
authors.lastname: Malysheva
authors.forename: A S
authors.initials: AS
authors.lastname: Glotov
authors.forename: T E
authors.initials: TE
authors.lastname: Ivashchenko
authors.forename: A N
authors.initials: AN
authors.lastname: Baranov
mesh_terms: D018682:GABA Agents / Q000627:therapeutic use*; D006801:Humans; D009134:Muscular Atrophy, Spinal / Q000235:genetics* / Q000378:metabolism / Q000628:therapy*; D017411:Ribonucleoproteins, Small Nuclear / Q000235:genetics / Q000378:metabolism; D055532:SMN Complex Proteins / Q000235:genetics* / Q000378:metabolism; D055533:Survival of Motor Neuron 1 Protein / Q000235:genetics* / Q000378:metabolism; D055540:Survival of Motor Neuron 2 Protein; D014635:Valproic Acid / Q000627:therapeutic use*
chemical_list: D018682:GABA Agents; D017411:Ribonucleoproteins, Small Nuclear; D055532:SMN Complex Proteins; C526471:SMN1 protein, human; C526477:SMN2 protein, human; D055533:Survival of Motor Neuron 1 Protein; D055540:Survival of Motor Neuron 2 Protein; D014635:Valproic Acid