The Last Of Us
Assessment of HEXA Gene Mutation induced Tay-Sachs disease of Tabriz Population in year 2016 IRAN
Shahin Asadi, Zahra Gholizadeh, Mahsa Sadat Mir Jamali
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The Last Of Us
Assessment of HEXA Gene Mutation induced Tay-Sachs disease of Tabriz Population in year 2016 IRAN
Shahin Asadi, Zahra Gholizadeh, Mahsa Sadat Mir Jamali
Información del libro
Today, nervous disorders of the nervous system are caused by gene changes. Many neurological diseases are of genetic origin. Tay-Sachs disease always causes human death. We have talent in this book to study genetic mutations in human nerve cell, Tay-Sachs disease evaluated.Tay-Sachs disease is one of the few neurodegenerative diseases of known causes. It results from mutations of the HEXA gene encoding the alpha subunit of beta-hexosaminidase, producing a destructive ganglioside accumulation in lysosomes, principally in neurons. With the determination of the protein sequence of the alpha and beta subunits, deduced from cDNA sequences, the complex pathway of subcellular and lysosomal processing of the enzyme has been determined. More recently, detailed knowledge of the gene structure has allowed the determination of specific mutations causing Tay-Sachs disease. The high incidence of the disease in Ashkenazi Jews is attributed predominantly to three mutations present in high frequency, while in non-Jews some two dozen mutations have been identified thus far. The cataloguing of mutations has important implications for carrier screening and prenatal diagnosis for Tay-Sachs disease.