Health news

A key cellular mechanism in Huntington Disease unravelled

What is Huntington disease New Delhi, March 20 (By Sunderarajan Padmanabhan ): Huntington disease (HD) is a progressive genetic disorder affecting the brain that causes uncontrolled movements, impaired coordination of balance and movement, a decline in cognitive abilities, difficulty in concentrating and memory lapses, mood swings and personality changes. Its caused by a mutation in a gene called HTT. The HTT genes are involved in the production of a protein called huntingtin. They provide the instruction for making the protein. When the genes mutate, they provide faulty instructions leading to production of abnormal huntingtin proteins and these form into clumps. The clumps disrupt the normal functioning of the brain cells, which eventually leads to death of neurons in the brain, resulting in Huntington disease. While it is known that the clumps formed by the abnormal huntingtin protein disrupt several cellular processes, it is not known whether they also influence the key process in the formation of other proteins in the cell. A team of scientists from National Centre for Cell Science (NCCS) in Pune led by Dr. Amitabha Majumdar have been working to gain insights into this by studying the HTT gene in fruit flies. They observed that the pathogenic Huntingtin protein causes a decrease in the overall protein production in cells and that the Huntingtin clumps collect together (sequester) molecules of another protein called Orb2, which is involved in the process of protein formation. They speculated that the Huntingtin clumps were possibly making molecules of Orb2 unavailable  to carry out their normal function associated with protein formation, leading to the observed reduction in proteins in the cell. To gain clarity on this, they induced the cells to produce Orb2 in excess, and found that this did indeed reduce the adverse effects of the faulty Huntingtin protein, which supported their speculation. In humans, a family of proteins called CPEB is equivalent to the Orb2 protein in fruit flies. The scientists conducted further studies and found that CPEB proteins are also sequestered by the pathogenic Huntingtin clumps, similar to the Orb2 protein molecules. This suggests that the insights gained through the…


Way paved to diagnose oral cancer metastasis better

New Delhi, February 06: A team of researchers headed by Dr. Partha Majumder of Department of Biotechnology’s National Institute of Biomedical Genomics (NIBMG), Kalyani, West Bengal has identified five biomarkers that could help develop new molecular diagnostic to predict lymph node metastasis in oral cancer patients more effectively. The scientists have identified alterations in DNA, multiple genes and pathways associated with local lymph node metastasis in oral cancers. Metastatic lymph nodes carry cancer from primary sites to other sites. The team analysed exome-wide sequence and genome-wide copy number data and identified both heritable and non-heritable genomic alterations associated with lymph node metastasis. Oral cancer is considered one of the most predominant cancers found among men in Indian subcontinent. Oral cancer is mostly caused by chewing of tobacco. The cancer is often diagnosed at advanced stages which results in poor survival rates among patients. Most of the oral cancer reported global are found in developing/underdeveloped regions including India where per capita consumption of tobacco is high. In spite of many therapeutic advancements, there has been no significant improvement in survival outcome of such cancer patients in the last decade. The Department of Biotechnology (DBT) has been participating in large scale international initiative of International Cancer Genome Consortium to identify genomic changes that drive oral cancer through two collaborating organizations. Mumbai-based Advanced Centre for Treatment, Research and Education in Cancer (ACTREC) conducts the clinical arm of the research, and the National Institute of Biomedical Genomics (NIBMG) carries out the genomic analysis part. In the new study, scientists of NIBMG have discovered five biomarkers which can make it possible to tell in advance if a person with oral cancer of the gums and cheeks has lymph node metastasis or not. The prediction is 80-90% accurate. Two of the biomarkers are rare heritable DNA changes in BRCA2 and FAT1 genes. The protein coded by FAT1 gene acts as an adhesion molecule that keeps the cells together. The loss of adhesion potential of cancer cells leads to spreading of cancer cells to secondary sites. The human BRCA2 is a care taker gene and it acts…

Research News

NBRC scientists pave the way for a better understanding of Autism

New Delhi, February 03 (India Science Wire): Autism or Autism spectrum disorder (ASD) is a neuro-developmental disorder where brain development goes awry, while Intellectual Disability (ID) is another neurodevelopmental disorder in which the patient displays low intelligence quotient (IQ) with decreased ability to learn, reason, make decisions and solve problems. Both ASD and ID pose a huge socio-economic burden on a global scale. However, there is no human-based models to study them. Consequently, there is a lack of knowledge of their pathophysiology, which is essential to design treatment strategies. Researchers at National Brain Research Centre at Manesar, Gurugram, have now filled the gap. They have developed a human-based model that could help study how brain develops, particularly about neurons and what goes awry during brain development. MicroRNAs (miRNAs) are small Ribonucleic Acid molecules. They are present inside every cell, from plants to humans. They regulate the expression of genes and thus control protein expression in cells. They are expressed in great numbers in a developing nervous system. Among other things, they play an important role in determining the fate of stem cells, which are present in everyone’s brain and popularly known as human neural stem cells. However, scientists have not been able to figure out the exact manner by which they affect the stem cells. The scientists at NBRC have used their new model to investigate the role of miRNA-137, a brain enriched miRNA, in determining the fate of human induced pluripotent stem cells (iPSCs)-derived neural stem cells (hiNSCs). The iPSC derived NSCs are considered as ideal models to study neurodevelopmental disorders because one can derive iPSCs from patient’s blood and it is possible to induce NSCs from them. They chose to study miRNA-137 since it is downregulated in ASD and ID. Leader of the study team, Dr. Yogita K. Adlakha said, ”Our study demonstrated the crucial roles of miRNA-137 in determining the fate of human neural stem cells, with an elaboration of underlying molecular mechanism. It provides the first evidence that miRNA-137 inhibits proliferation of human neural stem cells, while enhancing their differentiation towards neurons. The mitochondria are the…