Spinal muscular atrophy: Molecular mechanism of pathogenesis, diagnosis, therapeutics, and clinical trials in the Indian context
J Biosci. 2024;49:36.ABSTRACTSpinal muscular atrophy (SMA) is a neuromuscular, rare genetic disorder caused due to loss-of-function mutations in the survival motor neuron-1 (SMN1) gene, leading to deficiency of the SMN protein. The severity of the disease phenotype is inversely proportional to the copy number of another gene, SMN2, that differs from SMN1 by a few nucleotides. The current diagnostic methods for SMA include symptom-based diagnosis, biochemical methods like detection of serum creatine kinase, and molecular detection of disease-causing mutations using polymerase chain reaction (PCR), multiplex ligation-depende...
Source: Journal of Biosciences - February 22, 2024 Category: Biomedical Science Authors: Ashutosh Aasdev Sreelekshmi R S V Rajesh Iyer Shivranjani C Moharir Source Type: research
Recent developments in gene therapy research in India
J Biosci. 2024;49:37.ABSTRACTInherited genetic disorders are progressive in nature and lead to organ dysfunction or death in severe cases. At present, there are no permanent treatment options for >95% of inherited disorders. Different modes of inheritance, type of gene(s) involved, and population-based variations add further complexity to finding suitable cures for approximately 400 million patients worldwide. Gene therapy is a very promising molecular technique for the treatment of rare genetic disorders. Gene therapy functions on the basis of restoration, replacement, inhibition, and, most recently, editing of gene(s)...
Source: Journal of Biosciences - February 22, 2024 Category: Biomedical Science Authors: Ruchita Selot Arkasubhra Ghosh Source Type: research
Enhancing access to treatment for Gaucher disease in India: The need for indigenous manufacturing
This article aims to address this issue by advocating for the establishment of indigenous manufacturing capabilities for GD medicines in India. Through an examination of the current landscape of GD treatment, including the availability, affordability, and challenges associated with imported medications, this article highlights the urgent need for localized production. By focusing on the potential benefits of indigenous manufacturing, such as reduced costs, increased accessibility, and enhanced availability, this research aims to provide insights and recommendations to policymakers, healthcare professionals, and relevant st...
Source: Journal of Biosciences - February 22, 2024 Category: Biomedical Science Authors: Nidhi Patel Heta Pandya Ganesh Sangle Mohua Chakraborty Choudhury Source Type: research
Current status of research in rare genetic disorders and drug discovery in India
J Biosci. 2024;49:39.ABSTRACTThe major health agenda of India so far has prioritized infectious diseases and public health. Given the socioeconomic conditions and poverty, a large fraction of the Indian population is exposed to infections from different pathogens, most notably enteric, parasitic, mycobacterial, and viral. In recent years, however, there has been a decline in the spread of these diseases with better surveillance, availability of therapy, improvement of socioeconomic conditions, and education. It is now being realized that non-communicable diseases are reaching epidemic proportions in India and there is a gr...
Source: Journal of Biosciences - February 22, 2024 Category: Biomedical Science Authors: Alok Bhattacharya Sudha Bhattacharya Rakesh Mishra Source Type: research
The rare genetic disease research landscape in India
J Biosci. 2024;49:40.ABSTRACTI am delighted to see this special issue on 'The Rare Genetic Disease Research Landscape in India'' by the Journal of Biosciences, published by the Indian Academy of Sciences in collaboration with Springer Nature. It is the first time that a mainstream biology journal has decided to publish a whole issue on rare genetic disorders. I congratulate the editorial board of the Journal of Biosciences for their timely support to encourage research in this area. I also believe that this issue will increase awareness about rare genetic diseases research and encourage many in India to enter the field.PMI...
Source: Journal of Biosciences - February 22, 2024 Category: Biomedical Science Authors: Vinod K Paul Source Type: research
Sustainable blue economy: Opportunities and challenges
J Biosci. 2024;49:18.ABSTRACTThe term 'blue economy', first introduced in 2010, is the sustainable use of ocean resources for economic growth, jobs, ocean health, and to improve livelihoods. However, a sustainable blue economy faces various challenges in the form of global warming, ocean acidification, and lack of knowledge about the ocean; for example, 95% of the sea is still unexplored, making it more important to understand the blue economy and implement it on a global scale. Other challenges include harmful algal blooms (HABs), invasive species, coral bleaching, and thermohaline circulation. This review discusses vario...
Source: Journal of Biosciences - January 30, 2024 Category: Biomedical Science Authors: Sahil Narwal Manpreet Kaur Digvijay Singh Yadav Felix Bast Source Type: research
Tumor immune microenvironment-based clusters in predicting prognosis and guiding immunotherapy in breast cancer
J Biosci. 2024;49:19.ABSTRACTThe development and progression of breast cancer (BC) depend heavily on the tumor microenvironment (TME), especially tumor infiltration leukocytes (TILs). TME-based classifications in BC remain largely unknown and need to be clarified. Using the bioinformatic analysis, we attempted to construct a prognostic nomogram based on clinical features and TME-related differentially expressed genes (DEGs). We also tried to investigate the association between the prognostic nomogram and clinical characteristics, TILs, possible signaling pathways, and response to immunotherapy in BC patients. DEGs for BC p...
Source: Journal of Biosciences - January 30, 2024 Category: Biomedical Science Authors: Yijing Liu Xiaodong He Y I Yang Source Type: research
Mungbean in Central Asia: It went there from East Asia, not South Asia
J Biosci. 2024;49:20.ABSTRACTThe migration and dispersal of organisms is fascinating from many perspectives and, in the case of crop plants, intersects with the movement of human beings. As they explore new areas, agricultural peoples carry seeds of crops, which move and may establish ('diffuse') where they go. In order to understand the movement of the crop across regions, we need to understand the pattern and rate of diffusion of the crop, as well as that of the people involved, both those who carried it and those who adopted it. What determines whether a particular crop will establish in a new region with a different cl...
Source: Journal of Biosciences - January 30, 2024 Category: Biomedical Science Authors: Geeta R E Roshini Nayar Source Type: research
Generation and characterization of retinal pigment epithelium from patient iPSC line to model oculocutaneous albinism (OCA)1A disease
This study aimed to develop a disease-specific in vitro model for OCA type 1A, the most severe form caused by TYR (tyrosinase) gene mutations, using retinal pigment epithelium (RPE) differentiated from patient-derived human-induced pluripotent stem cells (hiPSCs). A comparative study between healthy and OCA1A RPE cells revealed that while healthy RPE cells exhibited timely onest of pigmentation during differentiation, OCA1A RPE cells failed to pigment even after an extended culture period. This observation was validated by ultrastructural studies using electron microscopy, hinting at melanosome-specific defects. Immunocyto...
Source: Journal of Biosciences - January 30, 2024 Category: Biomedical Science Authors: Janavi Subramani Niharika Patlolla Rajani Battu Taslimarif Saiyed Rajarshi Pal Source Type: research
Lafora progressive myoclonus epilepsy: Disease mechanism and therapeutic attempts
J Biosci. 2024;49:22.ABSTRACTLafora disease (LD) is a life-threatening autosomal recessive and progressive neurodegenerative disorder that primarily affects adolescents, resulting in mortality within a decade of onset. The symptoms of LD include epileptic seizures, ataxia, dementia, and psychosis. The underlying pathology involves the presence of abnormal glycogen inclusions in neurons and other tissues, which may contribute to neurodegeneration. LD is caused by loss-of-function mutations in either the EPM2A gene or the NHLRC1 gene. These two genes, respectively, code for laforin phosphatase and malin ubiquitin ligase, and...
Source: Journal of Biosciences - January 30, 2024 Category: Biomedical Science Authors: Rashmi Parihar Subramaniam Ganesh Source Type: research
Screening of quinoa ( < em > Chenopodium quinoa < /em > Willd.) germplasms under high-SAR saline water on the basis of growth, yield, and multivariate analysis
This study was aimed to screen quinoa germplasms under high-sodium adsorption ratio (SAR) saline stress. Thirteen quinoa germplasms were evaluated under four levels [best available water (BAW), 8, 16, and 24 dSm-1] of high-SAR saline water irrigation. The evaluation was carried out based on growth, yield, and ionic content parameters along with statistical tools such as multivariate analysis, salt tolerance indices, and correlation. The results showed that the salinity levels of 16 and 24 dSm-1 resulted in increase of chlorophyll content relative to BAWand 8 dSm-1. The germplasm CSQ2 recorded the highest proline content (1...
Source: Journal of Biosciences - January 30, 2024 Category: Biomedical Science Authors: Kailash Prajapat Satish Kumar Sanwal Parbodh Chander Sharma Source Type: research
Leaf and tree age-related changes in leaf ecophysiological traits, nutrient, and adaptive strategies of < em > Alnus nepalensis < /em > in the central Himalaya
J Biosci. 2024;49:24.ABSTRACTLeaf ecophysiological traits are known to change with leaf and tree age. In the present study, we measured the effect of leaf and tree age on leaf ecophysiological and morphological traits of nitrogen-fixing Alnus nepalensis (D. Don) which is a pioneer tree species in degraded lands. Three naturally occurring A. nepalensis forest stands, namely young (5-8 years old), mature (40-55 years old), and old (130-145 years old), were considered in this study. We also investigated the seasonal variations in leaf ecophysiological and morphological traits during leaf flushing, fully expanded, and leaf sen...
Source: Journal of Biosciences - January 30, 2024 Category: Biomedical Science Authors: Rajendra Kumar Joshi Ambuj Mishra Rajman Gupta Satish Chandra Garkoti Source Type: research
Sustainable blue economy: Opportunities and challenges
J Biosci. 2024;49:18.ABSTRACTThe term 'blue economy', first introduced in 2010, is the sustainable use of ocean resources for economic growth, jobs, ocean health, and to improve livelihoods. However, a sustainable blue economy faces various challenges in the form of global warming, ocean acidification, and lack of knowledge about the ocean; for example, 95% of the sea is still unexplored, making it more important to understand the blue economy and implement it on a global scale. Other challenges include harmful algal blooms (HABs), invasive species, coral bleaching, and thermohaline circulation. This review discusses vario...
Source: Journal of Biosciences - January 30, 2024 Category: Biomedical Science Authors: Sahil Narwal Manpreet Kaur Digvijay Singh Yadav Felix Bast Source Type: research
Tumor immune microenvironment-based clusters in predicting prognosis and guiding immunotherapy in breast cancer
J Biosci. 2024;49:19.ABSTRACTThe development and progression of breast cancer (BC) depend heavily on the tumor microenvironment (TME), especially tumor infiltration leukocytes (TILs). TME-based classifications in BC remain largely unknown and need to be clarified. Using the bioinformatic analysis, we attempted to construct a prognostic nomogram based on clinical features and TME-related differentially expressed genes (DEGs). We also tried to investigate the association between the prognostic nomogram and clinical characteristics, TILs, possible signaling pathways, and response to immunotherapy in BC patients. DEGs for BC p...
Source: Journal of Biosciences - January 30, 2024 Category: Biomedical Science Authors: Yijing Liu Xiaodong He Y I Yang Source Type: research
Mungbean in Central Asia: It went there from East Asia, not South Asia
J Biosci. 2024;49:20.ABSTRACTThe migration and dispersal of organisms is fascinating from many perspectives and, in the case of crop plants, intersects with the movement of human beings. As they explore new areas, agricultural peoples carry seeds of crops, which move and may establish ('diffuse') where they go. In order to understand the movement of the crop across regions, we need to understand the pattern and rate of diffusion of the crop, as well as that of the people involved, both those who carried it and those who adopted it. What determines whether a particular crop will establish in a new region with a different cl...
Source: Journal of Biosciences - January 30, 2024 Category: Biomedical Science Authors: Geeta R E Roshini Nayar Source Type: research
