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Paper Details

Telomeropathies - A Genetic Conglomerate

Telomeropathies - A Genetic Conglomerate

Gurpreet Kaur, Priyanka mishra, Preeti Tripathi, Seema Tyagi, Haraprasad Pati and Manoranjan Manapara

Journal Title:Acta Scientific Cancer Biology

Telomeres are repeated TTAGGG hexanucleotides and proteins associated with them. Telomeres function to form a stable end of the chromosome and protect it from being recognized as a DNA fragment that needs repair. Telomeropathies or ‘telomere biol-ogy disorders’ are rare and heterogenous diseases that are caused by mutations in the maintenance of telomerase or the damage response system (DDR). Telomeropathies or telomere biology disorders (TBDs) may be classified as primary and secondary. Primary telomeropathies are due to defects in the telomere maintenance machinery whereas secondary telomeropathies are caused by fail-ures in the DDR.Dyskeratosis congenita (DKC) which is an inherited bone marrow failure syndrome is the classical example of the telomeropathy syndromes. Progressive telomere loss or attrition is associated with and is likely to be an etiology of malignant transformation. Over 85% of malignant tumors show positivity for telomerase, in contrast most normal tissues are telomerase-negative, and owing to this telomerase enzyme has become an excellent target in research for newer therapies that inhibit telomerase and shorten telomeres in malignant cells. In aplastic anemia, patients with the shortest telomeres are four- to five times more likely to have clonal evolution of disease and undergo progression to myelodysplastic syndrome and leukemia. The telomeropathies hence resemble a spectrum of disorders rather than being distinct diseases.Diagnosis of a telomeropathies needs awareness with regards to the clinical features the laboratory results and the molecular testing. Due to the rarity of telomeropathies and a low degree of suspicion the diagnosis may often be missed. For some telomer-opathies early diagnosis will translate into overall survival benefits and improved quality of life. In this review, we give an overview of the pathophysiology, signs and symptoms of the disorders caused by defects in telomere biology and touch upon the detection of telomeropathies in the laboratory.