Study of Genetics Mutations in HEXA Gene for Induced Tay-Sachs Disease in Human, Tabriz, Iran
Journal Title: Open Access Journal of Microbiology & Biotechnology - Year 2017, Vol 2, Issue 1
Abstract
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 sub cellular 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.
Authors and Affiliations
Shahin A, Mahsa J, Manoush T, Samaneh SD
Keywords
Related Articles
- EP ID EP291078
- DOI 10.23880/oajmb-16000113
- Views 112
- Downloads 0
Bacteriolyses of Bacterial Cell Walls by Zinc (Ⅱ) Ions on the Basis of the Results of Halo Antibacterial Susceptibility Tests for Metallic Salt Solutions
Bacteriolyses of bacterial cell walls by zinc(Ⅱ) ions on the basis of the results of halo antibacterial susceptibility tests were investigated for the nitrate and the sulfate solutions. From the results obtained by halo...
Fungal Phytase Production in Different Hosts: A Brief Review
In this brief review we describe the main results of biotechnology studies on fungal phytases available in the literature, their main host cells and mutagenicity methodologies in order to improve thermostability and acid...
The Medicinal Efficacies of Cordyceps Militaris (L.) Link
Cordyceps militaris is the representative species of Ascomycete genus Cordyceps and can be found throughout most of the Northern Hemisphere as a pathogen of lepidopteran insect pupae. Mycelia or fruit bodies of C.militar...
Study of Genetics Mutations in HEXA Gene for Induced Tay-Sachs Disease in Human, Tabriz, Iran
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 accumulati...
Single Nucleotide Modification of VP2 Gene of Highly Virulent Infectious Bursal Disease Virus for Effective Expression Strategy in Tobacco
Plant viral-based expression system offers an alternative tool for the expression of various target proteins via stable transformation or transient expression in plants. In transient expression strategy, generation of in...