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
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
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
