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Journal of Genetic Syndromes & Gene Therapy

Journal of Genetic Syndromes & Gene Therapy
Open Access

ISSN: ISSN: 2157-7412

+32 28087017

Tay-Sachs

 

Tay-Sachs is a genetic disorder that destroys the nerve cells in the brain and spinal cord. Characteristic features include weakening of muscles,intellectual disability,vision and hearing loss,paralyses.Mutations in the HEXA gene causes this disease .This gene is responsible for the production of an enzyme in lysosome which plays a critical role in the brain and spinal cord.This enzyme breaks down the toxic substances in the cell.Mutations in the HEXA gene causes failure in the production of enzyme resulting in the accumulation of toxic substances in the cells leading to damage in the neurons of the brain and spinal cord.

 

Since Tay-Sachs disease impairs the function of a lysosomal enzyme this condition is sometimes referred to as a lysosomal storage disorder.This condition is inherited in which both the copies if the gene undergoes mutations. Persons with Tay- Sachs disease experience vision and hearing loss, intellectual disability and paralysis. An eye abnormality called a cherry-red spot is the characteristic feature of this disorder.

Related Journals of Tay-Sachs

Carcinogenesis, Genetic Engineering, Human Molecular Genetics, Sao Paulo Medical Journal, Journal of Neurochemistry, Journal of Molecular Biology, New England Journal of Medicine, Mammalian Genome - MAMM GENOME, Tay-Sachs Journals

 

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