EUROPEAN JOURNAL OF
PHARMACEUTICAL AND MEDICAL RESEARCH

( An ISO 9001:2015 Certified International Journal )

An International Peer Reviewed Journal for Pharmaceutical, Medical & Biological Sciences

An Official Publication of Society for Advance Healthcare Research (Reg. No. : 01/01/01/31674/16)

European Journal of Pharmaceutical and Medical Research (EJPMR) has indexed with various reputed international bodies like : Google Scholar , Indian Science Publications , InfoBase Index (In Process) , SOCOLAR, China , Research Bible, Fuchu, Tokyo. JAPAN , International Society for Research activity (ISRA) , Scientific Indexing Services (SIS) , Polish Scholarly Bibliography , Global Impact Factor (GIF) (Under Process) , Universal Impact Factor , International Scientific Indexing (ISI), UAE  , Index Copernicus , CAS (A Division of American Chemical Society) USA (Under Process) , Directory of Open Access Journal (DOAJ, Sweden, in process) , UDLedge Science Citation Index , CiteFactor , Directory Of Research Journal Indexing (DRJI) , Indian citation Index (ICI) , Journal Index (JI, Under Process) , Directory of abstract indexing for Journals (DAIJ) , Open Access Journals (Under Process) , Impact Factor Services For International Journals (IFSIJ) , Cosmos Impact Factor , Jour Informatics (Under Process) , Eurasian Scientific Journal Index (ESJI) , International Innovative Journal Impact Factor (IIJIF) , Science Library Index, Dubai, United Arab Emirates , Pubmed Database [NLM ID: 101669306] (Under Process) , IP Indexing (IP Value 2.40) , Web of Science Group (Under Process) , Directory of Research Journals Indexing , Scholar Article Journal Index (SAJI) , International Scientific Indexing ( ISI ) , 

 ISSN 2394-3211

Impact Factor: 6.222

 ICV - 79.57

Abstract

TAY SACH’S DISEASE, A GENETIC MUTATION: MECHANISM OF ONSET OF DISEASE AND PHYNOTYPIC CHARACTERIZATION

Sikander Ali*, Maleeha Hanif and Jawad Siddique

ABSTRACT

Tay sach disease is a genetic disorder. It is a storage disease in which due to mutation in gene present on chromosome no 15 called HexA gene. This gene is responsible for production of hexoaminidase enzyme. This enzyme help in lipid metabolism present in cell. Due to lack of this enzyme the GM2 ganglioside does not metabolize thus ultimately store into the brain neurons lead to the accumulation of lipids in brain and cause tay sach disease. This disease is fatal as brain stop working and receiving and transporting signals thus death occur. The disease is simply diagnose by blood test in which level of hexoaminidase enzyme is being checked in the blood, children having this disease can be identify by cherry red spot in their eyes while carrier testing is also done in newly married couples to prevent the risks of pregnancies of tay sach diseased baby. As there is no permanent prevention or treatment for this disease nut the ways can be adopt to make the lives of patients comfortable such as massage therapy to make their muscles relax , treating with feed tubes to those who have lost the ability of swallowing, providing them wheel chairs and walkers to facilitate in mobility. Completely loss of enzyme leads to the severe condition called sandhoff disease in which a patient cannot survive for more time.

Keywords: .


[Full Text Article]

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Google Scholar Indian Science Publications InfoBase Index (In Process) SOCOLAR, China Research Bible, Fuchu, Tokyo. JAPAN International Society for Research activity (ISRA) Scientific Indexing Services (SIS) Polish Scholarly Bibliography Global Impact Factor (GIF) (Under Process) Universal Impact Factor International Scientific Indexing (ISI), UAE Index Copernicus CAS (A Division of American Chemical Society) USA (Under Process) Directory of Open Access Journal (DOAJ, Sweden, in process) UDLedge Science Citation Index CiteFactor Directory Of Research Journal Indexing (DRJI) Indian citation Index (ICI) Journal Index (JI, Under Process) Directory of abstract indexing for Journals (DAIJ) Open Access Journals (Under Process) Impact Factor Services For International Journals (IFSIJ) Cosmos Impact Factor Jour Informatics (Under Process) Eurasian Scientific Journal Index (ESJI) International Innovative Journal Impact Factor (IIJIF) Science Library Index, Dubai, United Arab Emirates Pubmed Database [NLM ID: 101669306] (Under Process) IP Indexing (IP Value 2.40) Web of Science Group (Under Process) Directory of Research Journals Indexing Scholar Article Journal Index (SAJI) International Scientific Indexing ( ISI )