Gene therapy approaches for GM1 gangliosidosis: Focus on animal and cellular studies.
Cell Biochem Funct
; 41(8): 1093-1105, 2023 Dec.
Article
em En
| MEDLINE
| ID: mdl-38018878
ABSTRACT
One of the most important inherited metabolic disorders is GM1 gangliosidosis, which is a progressive neurological disorder. The main cause of this disease is a genetic defect in the enzyme ß-galactosidase due to a mutation in the glb1 gene. Lack of this enzyme in cells (especially neurons) leads to the accumulation of ganglioside substrate in nerve tissues, followed by three clinical forms of GM1 disease (neonatal, juvenile, and adult variants). Genetically, many mutations occur in the exons of the glb1 gene, such as exons 2, 6, 15, and 16, so the most common ones reported in scientific studies include missense/nonsense mutations. Therefore, many studies have examined the genotype-phenotype relationships of this disease and subsequently using gene therapy techniques have been able to reduce the complications of the disease and alleviate the signs and symptoms of the disease. In this regard, the present article reviews the general features of GM1 gangliosidosis and its mutations, as well as gene therapy studies and animal and human models of the disease.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Gangliosidose GM1
Limite:
Adult
/
Animals
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Humans
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Newborn
Idioma:
En
Revista:
Cell Biochem Funct
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
Irã