Spinal muscular atrophy: from animal model to clinical trial

Zanoteli, Edmar and Ruivo Maximino, Jessica and Conti Reed, Umbertina and Chadi, Gerson (2010) Spinal muscular atrophy: from animal model to clinical trial. Functional Neurology; New Trends in Interventional Neurosciences, 25 (2). pp. 73-79. ISSN 1971-3274

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Abstract

Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by degeneration and loss of lower motor neurons in the spinal cord and brainstem. Clinically, SMA has been classified into four types, according to the maximum function attained. The disease is caused by deletion or mutation of the telomeric copy of the SMN gene (SMN1), and the clinical severity is in part determined by the copy number of the centromeric SMN gene (SMN2). The SMN2 mRNA lacks exon 7, resulting in reduced production of the full-length SMN protein. Treatment of SMA consists of supportive care, although many drugs have been demonstrated to improve muscle strength and motor function of patients. The development of animal models of SMA has led to better interpretation of the physiopathology of the disease and testing of potential drug targets. Several mechanisms have been targeted in SMA drug trials, including neuroprotection, neurogenesis, energy metabolism improvement, anabolic stimulation and increment of SMN2 transcripts. Gene therapy and cell transplantation have also been tested in murine SMA

Item Type:	Article
Uncontrolled Keywords:	Animal models, clinical trials, SMN gene, spinal muscular atrophy
Subjects:	600 Tecnologia - Scienze applicate > 610 Medicina e salute (Classificare qui la tecnologia dei servizi medici) > 616 Malattie (classificare qui la Clinica medica, la medicina basata sull'evidenza, la Medicina interna, la Medicina sperimentale) > 616.8 Malattie del sistema nervoso e disturbi mentali (Classificare qui la Neuropsichiatria, la Neurologia) 600 Tecnologia - Scienze applicate > 610 Medicina e salute (Classificare qui la tecnologia dei servizi medici) > 616 Malattie (classificare qui la Clinica medica, la medicina basata sull'evidenza, la Medicina interna, la Medicina sperimentale) > 616.8 Malattie del sistema nervoso e disturbi mentali (Classificare qui la Neuropsichiatria, la Neurologia) > 616.83 Altre malattie organiche del sistema nervoso centrale (Include la corea ed i disturbi coreici ad eccezione della malattia di Huntington (in 616.851) (Classificare qui, in 616.83, le malattie dei gangli vasali, del midollo spinale)
Depositing User:	Danilo Dezzi
Date Deposited:	05 Jan 2012 18:43
Last Modified:	06 Jan 2012 09:49
URI:	http://eprints.bice.rm.cnr.it/id/eprint/3528

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