TREATMENT STRATEGIES FOR SPINAL MUSCULAR ATROPHY

被引：4

作者：

Fuller, Heidi R. ^{[1
,2
]}

Barisic, Marija ^{[3
]}

Seso-Simic, Durdica ^{[4
]}

Speljko, Tea ^{[5
]}

Morris, Glenn E. ^{[1
,2
]}

Simic, Goran ^{[5
]}

机构：

[1] RJAH Orthopaed Hosp, Wolfson Ctr Inherited Neuromuscular Dis, Oswestry, Shrops, England

[2] Keele Univ, Inst Sci & Technol Med, Keele, Staffs, England

[3] Univ Hosp Ctr Zagreb, Dept Ophthalmol, Zagreb, Croatia

[4] Zagreb E Med Ctr, Dept Paediat, Zagreb, Croatia

[5] Univ Zagreb, Sch Med, Dept Neurosci, Croatian Inst Brain Res, Zagreb 41001, Croatia

来源：

TRANSLATIONAL NEUROSCIENCE | 2010年 / 1卷 / 04期

关键词：

Clinical trials; Spinal muscular atrophy; SMN1; gene; SMN2; SMN protein; Treatment; Therapy; SURVIVAL MOTOR-NEURON; THYROTROPIN-RELEASING-HORMONE; SMN2; GENE-EXPRESSION; PLACEBO-CONTROLLED TRIAL; VALPROIC ACID INCREASES; SURROGATE END-POINTS; SEVERE MOUSE MODEL; STEM-CELLS; MESSENGER-RNA; IN-VITRO;

D O I：

10.2478/v10134-010-0045-4

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

Progress in understanding the genetic basis and pathophysiology of spinal muscular atrophy (SMA), along with continuous efforts in finding a way to increase survival motor neuron (SMN) protein levels have resulted in several strategies that have been proposed as potential directions for efficient drug development. Here we provide an overview on the current status of the following approaches: 1) activation of SMN2 gene and increasing full length SMN2 transcript level, 2) modulating SMN2 splicing, 3) stabilizing SMN mRNA and SMN protein, 4) development of neurotrophic, neuroprotective and anabolic compounds and 5) stem cell and gene therapy. The new preclinical advances warrant a cautious optimism for emergence of an effective treatment in the very near future.

引用

页码：308 / 321

页数：14

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