TY - JOUR

T1 - Molecular genetic basis of proximal spinal muscular atrophy and experience in its pharmaceutical treatment

AU - Baranov, V.S.

AU - Kiselev, A.V.

AU - Vakharlovsky, V.G.

AU - Zheleznjakova, G.Ju.

AU - Komantzev, V.N.

AU - Malisheva, O.V.

AU - Glotov, A.S.

AU - Ivashchenko, T.E.

AU - Baranov, A.N.

PY - 2008

Y1 - 2008

N2 - 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 problems 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. © 2008 MAIK Nauka.

AB - 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 problems 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. © 2008 MAIK Nauka.

U2 - 10.1134/S1022795408100049

DO - 10.1134/S1022795408100049

M3 - Article

VL - 44

SP - 1148

EP - 1159

JO - Russian Journal of Genetics

JF - Russian Journal of Genetics

SN - 1022-7954

IS - 10

ER -