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Adeno-associated virus-mediated gene therapy for metabolic myopathy.

ABSTRACT: Metabolic myopathies are a diverse group of rare diseases in which impaired breakdown of stored energy leads to profound muscle dysfunction ranging from exercise intolerance to severe muscle wasting. Metabolic myopathies are largely caused by functional deficiency of a single gene and are generally subcategorized into three major types of metabolic disease: mitochondrial, lipid, or glycogen. Treatment varies greatly depending on the biochemical nature of the disease, and unfortunately no definitive treatments exist for metabolic myopathy. Since this group of diseases is inherited, gene therapy is being explored as an approach to personalized medical treatment. Adeno-associated virus-based vectors in particular have shown to be promising in the treatment of several forms of metabolic myopathy. This review will discuss the most recent advances in gene therapy efforts for the treatment of metabolic myopathies.

SUBMITTER: Mah CS

PROVIDER: S-EPMC3814817 | biostudies-literature | 2013 Nov

REPOSITORIES: biostudies-literature

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Adeno-associated virus-mediated gene therapy for metabolic myopathy.

Mah Cathryn S CS Soustek Meghan S MS Todd A Gary AG McCall Angela A Smith Barbara K BK Corti Manuela M Falk Darin J DJ Byrne Barry J BJ

Human gene therapy 20131101 11

Metabolic myopathies are a diverse group of rare diseases in which impaired breakdown of stored energy leads to profound muscle dysfunction ranging from exercise intolerance to severe muscle wasting. Metabolic myopathies are largely caused by functional deficiency of a single gene and are generally subcategorized into three major types of metabolic disease: mitochondrial, lipid, or glycogen. Treatment varies greatly depending on the biochemical nature of the disease, and unfortunately no definit ...[more]

PMID: 24164240

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