Indian Journal of Genetics and Molecular Research

Mutations of BCR-ABL1 are observed in 50% of patients with Imatinib-resistant chronic myeloid leukemia (CML). The T315I mutation is resistant to imatinib and second-generation tyrosine kinase inhibitors (TKIs). We report the case of a 42-year-old male diagnosed with CML who acquired the T315I mutation while on Imatinib therapy. He was treated sequentially with combination therapy, comprising of interferon alpha and hydroxyurea which led to disappearance of the mutation and sustained haematological and major molecular response (MMR). To our knowledge, this is the first case report with a 12 year follow up showing the effectiveness of hydroxyurea/IFN combination therapy for CML patients bearing the T315I BCR-ABL mutation.

Today, when technology is opening doors that we didn’t know existed, it is important to enforce laws to ensure that every novel idea leads to the welfare of the society and not cause harm in any way. The discovery of Eugenics came as a revolution where the idea of improving the quality of inheritance in humans has aided in the development of various Assistant reproductive techniques, cytogenetic and molecular diagnostic methods, gene testing etc. Although a revolutionary idea, history holds evidences of how science can turn people blind if ethics don’t come into play. History may have instilled a stigma against any practice associated with the word genetic, but understanding history and the emphasis of ethics today can help in overcoming that. Genetic counselling is one such field where negative eugenics can take over and give deleterious powers to the physicians, which reiterates the importance of ethical interference.

One of the most hopeful developments in cancer field, has been the advent of circulating tumor cells (CTCs) which acts as an important prognostic biomarker of the metastasis. CTCs can be used for patient diagnosis and prognosis, as well as subsequent monitoring of treatment efficacy in cancer patients. Additionally, CTCs can be identified early in the progression of cancer which can be used for initial cancer detection and for anti-cancer treatment. Currently, CTC enumeration is an accepted prognostic indicator for breast, prostate, and colorectal cancer. But various study are going on other cancers besides these three to validate the role of CTCs in diagnostic and prognostic value of metastasis. In recent years, the focus of the researchers has shifted from CTCs enumeration to CTC enrichment and detection which holds great potential for predicting prognosis of cancers. Various detection technologies and devices have been developed to enumerate and characterize CTCs. Most of those approaches are based on the positive enrichment strategy and immune-cytological techniques. Here in this review, we focuses on the various techniques available for the enrichment and detection of CTCs as well as its potential applications in management of various tumors.

Hypertrophic cardiomyopathy is an ’umbrella’ term that encompasses a diverse and complex spectrum of genetic and acquired diseases. It is the most common familial heart disease (1:500) with vast heterogeneity with histological features of myocardial hypertrophy, myofibrillar disarray and interstitial fibrosis. The penetrance is incomplete and is age and gender dependent and has been accepted to be a disease of the sarcomere. Sixty percent of HCM carry mutations in one of eight sarcomere protein genes, mainly MYBPC3 and missense MYH7 variants. It is characterised by thickening of the wall of the heart, predominantly left ventricle (LV) and Inter ventricular septum (IVS). Due to the morphological and pathological heterogeneity of the disease, the appearance and progression of symptoms is not straightforward. Most HCM patients are asymptomatic, but up to 25% develop significant symptoms, including chest pain and sudden cardiac death. Sudden cardiac death is a dramatic event, since it occurs without warning and mainly in younger people, including trained athletes. Molecular diagnosis of HCM is of the outmost importance, since it may allow detection of subjects carrying mutations on HCM-associated genes before development of clinical symptoms of HCM. However, due to the genetic heterogeneity of HCM, molecular diagnosis is difficult. Currently, there are mainly four techniques used for molecular diagnosis of HCM, including Sanger sequencing, high resolution melting, mutation detection using DNA arrays, and next-generation sequencing techniques. Current pharmalogical treatment only focusses on symptom alleviation and prevention of complications. This short review on the current status of HCM highlights the importance of genetic implications and the importance of regenerative medicine to alleviate the gaps, together with new therapeutic drugs and delivery systems.

The main aim of our study is to highlight the few important aspects of male reproductive health and thus male infertility. The male infertility is a common issue among couples these days. Various infertility clinics and hospitals have developed to solve this problem however, specialists are not evaluating much after semenogram when it comes normal whereas only half of the problem is recognized by semenogram. So, the question should be what next to evaluate after that: Endocrinal profile, body mass index, karyotype, chromosome microdeletion, sperm DNA fragmentation index of patient? If we as clinicians bypass these tests, we might miss the underlying disorder or inadvertently transfer it to the offspring. Moreover, it also affects the outcome of various techniques of assisted reproduction.