Indian Journal of Genetics and Molecular Research

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.

Genetic research on schizophrenia, a common psychiatric disease with complex etiology and high (56-80%) heritability, has failed to identify causal genes, variants or causative mechanisms. Given the extensive effort and limited success to date, it is imperative to review potential reasons for this missing heritability. We argue that a successful elucidation of hereditary mechanisms in schizophrenia will likely involve attention to the role of neurodevelopment and cell differentiation and consideration of the genome structure, including temporal and spatial patterns. The identification of discrete endophenotypes, the, accommodation of environmental effects at the level of gene expression, including any sex differences and patterns of mutations, including de novo events, and the use of analytic techniques that go beyond genomewide association studies. Identification of the heritable component of schizophrenia is needed to understand the cause of the disorder and to facilitate the development of effective corrective and possibly preventive measures.

Early detection of oral cancer is essential for patient survival, and auxiliary techniques should be considered when conducting an objective clinical examination. Non-invasive techniques such as liquid biopsy and brush biopsy are being used, and downstream molecular approaches require harmonization and standardization. Safety precautions are being revised. Cervical cancer is common in low-income areas due to advanced stages of Human Papilloma Virus (HPV) infection and lack of treatment, poor prognosis, and diagnosis. Control strategies such as Pap smear screening and HPV vaccinations have been used to reduce the exponential increase in new cases. However, the preventative efficacy of HPV vaccines is only advantageous to those who have not been exposed to the virus. Further study is needed to determine how aberrant alternative splicing affects cervical cancer. Pap smear testing is an effective, convenient, affordable, and secure method for identifying precancerous cervical epithelial lesions. Hepatocellular carcinoma (HCC) is the third most prevalent cancer related cause of death worldwide, with sorafenib, chemotherapy, immunotherapy, oncolytic viral therapy, and novel target therapy available treatments. The X-Ray cross-complementing (XRCC) genes are essential elements of the DNA repair pathway and have been investigated in relation to a variety of human malignancies. Studies from Northern and Southern India have reported genetic polymorphisms in the DNA repair genes with respect to a variety of cancer risks, including prostate, breast, oral, and oesophageal cancers. This review provides a insight on various Biomarkers of malignancies with respected to Oral and Liver cancers emphasizing on their diagnosis and the need of non-invasive techniques.