Abstract

In this study we try to explore the concept of TERT and TERC in a holistic context. The main focus of the research is on “TERT and TERC and its relation with mutations of telomere in patients with bone marrow failure”. The research also analyzes many aspects of “TERT and TERC” and tries to gauge its effect on mutations of telomere in patients with bone marrow failure”. Finally the research describes various factors which are responsible for “TERT and TERC” and tries to describe the overall effect of “TERT and TERC on “telomere in patients with bone marrow failure.

TERT and TERC Mutations Of Telomere In Patients With Bone Marrow Failure

Introduction

Telomerae is an enzyme that adds specific DNA sequence repeats (TTAGGG in all vetebrati) at the end of DNA strands in the telomere regions, which lie at the ends of eukaryotic chromosomes. The telomeres contain condensed DNA material to provide stability to the chromosomes. The enzyme is a reverse transcriptase that carries its own RNA molecule is used as the template to elongate telomeres, which are gradually reduced after each cell replication cycle. The existence of a compensation mechanism all'acorciamanto telomere (ie telomerase), had originally been suggested by Soviet biologist Alexey Olovnikov in 1973, who also suggested the hypothesis that aging was linked to ' telomere shortening and that there was any relationship between telomeres and cancer.

Very recently, however, have been identified mutations of the complex components of telomerase (TERC and TERT), the enzyme that carries out construction and remedial action on telomeres . These structures act as a cap the ends of chromosomes and promote stability '. Their slow erosion is partly responsible for aging which cells undergo physiologically. It is suspected that the bone marrow cells should be met, thus, at a very early age that kills for programmed cell death ( apoptosis ). (Kurenova and Mason, Pp 87)

Telomerase was scopertoa by Carol W. Greider and Elizabeth Blackburn in 1985 in the ciliate Tetrahymena. Along with Jack W. Szostak, Greider and Blackburn have been awarded the 2009 Nobel Prize in medicine for this discovery. There is also some evidence that telomerase is antiretroviral source. The composition of the human telomerase protein was identified in 2007 by Scott Cohen and his team at Children's Medical Research Institute in Australia. This consists of two molecules of human telomerase, human telomerase reverse transcriptase (TERT), human telomerase RNA (TR or TERC) and dyskerin (DKC1). (Kurenova and Mason, Pp 87)

Discussion and Analysis

The subunit of telomerase, TERT, TERC, DKC1, and TEP1 etc.., are located on different chromosomes of the human genome. The g ene (hTERT) Human TERT is transcribed into a protein of 1132 aminocidi. The TERT proteinsequences are present in many prokaryotes. The TERT polypeptide folds with TERC, an RNA condificante (which in humans is long nuceleotici 451). The third has a structure, so-called mitten, which allows it to wrap around the chromosome to add telomere repeats to the individual. (Shay, pp 62) The TERT is a reverse transcriptase, which is a class of enzymes ...