Abstract

Telomere are the long repetitive stretch of non-coding, G rich DNA sequences, located at the distal end of linear chromosomes. These sequence are non-coding, but functional and also important regulator of the genome, as it is essential for maintenance of genomic integrity, by protecting coding genetic material from the fusion with neighbouring chromosomes. A sheltrin protein complex composed of six subunits and a telomerase enzyme, a ribonucleoprotein complex are important regulator of telomere, which protects the telomere sequences from the DNA damage response machineries and maintains the length of telomere by extension of 3’ G-overhang respectively. Telomerase activity is high in germline and stem cells, which contributes to genome stabilisation, and suppressed in somatic cells; hence with each cell division, telomere undergo age dependent incremental attrition of telomere length. Several factors are reported, which affects telomere length and telomerase activity in healthy individual as well as disease condition. A limited studies from the India have been reported on telomere length attrition and telomere gene mutations in isolated disease conditions. The present review primarily focusing on the telomeres in genetic disease and the cancers, suggesting a need of triad of telomere study including telomere length analysis, telomerase activity along with the genetic mutations using multiple approaches to enhance the clinical implication of telomeres in various diseases.

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