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 ) , Scope Database , Academia , 

 ISSN 2394-3211

Impact Factor: 7.065

 ICV - 79.57

Abstract

BLOOM SYNDROME: EFFECT OF MISSENCE MUTATIONS AND OXIDATIVE STRESS ON BLM GENE

Sikander Ali, Zainab Masood* and Nimra Khan

ABSTRACT

Bloom syndrome is a pleiotropic genetic disorder that belongs to group of chromosomal breakage syndromes. It is due to changes in a single gene; BLM gene. The RecQ family DNA helicases Bloom syndrome protein (BLM) plays a key role in protecting the genome angainst deleterious changes. The RECQ helicase DNA is metabolically involved in many functions and is therefore related to the origins of common cellular phenotypes that are identified and defined for RECQ deficient cells. Pathologic mutations are involved in Bloom syndrome. BLM interacts with telomeric proteins and functions in telomere maintenance. Oxidative stress is ROS-induced oxidative injury which causes mitochondrial alternations and change cellular metabolism, the ratio of GSSG/GSH is considerably lowered in BS patient that makes them sensitive to oxidative stress as well as increase in ROS production. BS as compared to other diseases is caused by oxidative stress which is characterized by accumulation of cancer cells and degeneration of neurological cells. Many studies related to phenotype of BS have been done which not only explain its causes but also therapeutic strategies to combat this disease.

Keywords: DNA repair, RecQ helicase, genomic instability, replication, mutation, premature aging, cancer, Bloom Syndrome, telomere, oxidative stress.


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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 ) Scope Database Academia