Journal of Biosciences

Rare genetic diseases are a group of life-threatening disorders affecting significant populations worldwide and posing substantial challenges to healthcare systems globally. India, with its vast population, is also no exception. The country harbors millions of individuals affected by these fatal disorders, which often result from mutations in a single gene. The emergence of CRISPR-Cas9 technology, however, has ushered in a new era of hope in genetic therapies. CRISPR-based treatments hold the potential to precisely edit and correct diseasecausing mutations, offering tailored solutions for rare genetic diseases in India...

Rare muscular disorders (RMDs) are disorders that affect a small percentage of the population. The disorders which are attributed to genetic mutations often manifest in the form of progressive weakness and atrophy of skeletal and heart muscles. RMDs includes disorders such as Duchenne muscular dystrophy (DMD), GNE myopathy, spinal muscular atrophy (SMA), limb girdle muscular dystrophy, and so on. Due to the infrequent occurrence of these disorders, development of therapeutic approaches elicits less attention compared with other more prevalent diseases...

Diseases of the human nervous system are an important cause of morbidity and mortality worldwide. These disorders arise out of multiple aetiologies of which rare genetic mutations in genes vital to nervous system development and function are an important cause. The diagnosis of such rare disorders is challenging due to the close overlap of clinical presentations with other diseases that are not of genetic origin. Further, understanding the mechanisms by which mutations lead to altered brain structure and function is also challenging, given that the brain is not readily accessible for tissue biopsy...

I am writing this piece as the parent of a son diagnosed with Duchenne muscular dystrophy, a severely debilitating disease that not only impairs skeletal muscles of the limbs but is also life-threatening due to progressive weakening of the cardiac and diaphragm muscles. I have traversed the harrowing diagnostic, treatment, and management odyssey of a typical rare disease (RD) patient in India.

Leaf 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 senescence phenological stages...

Increasing soil and underground water salinization with decreasing availability of fresh water has become a potential threat to sustainable crop production in arid and semi-arid areas globally. Introduction and evaluation of salt-tolerant halophytic crops is one of the sustainable ways to preserve productivity in saline ecosystems. 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...

Lafora 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 are thought to function, as a functional complex, in diverse cellular pathways...

Oculocutaneous albinism (OCA) is characterized by reduced melanin biosynthesis affecting the retina, thus impairing visual function. The disease pathology of OCA is poorly understood at the cellular level due to unavailability of suitable biological model systems. 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)...

The 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 climate and other environmental factors (e...

The 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...

The 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...

The yellow crazy ant, or the long-legged ant, Anoplolepis gracilipes (formerly Anoplolepis longipes ) - named so for its meandering movements when disturbed, possibly owing to its long legs and antennae - is globallywidespread and currently classified as one of '100 of the world's worst invasive species' (Lowe et al. 2000). This status is assigned to species that are non-native in a region and cause significant negative ecological and/or socioeconomic impacts, including declines in native biodiversity, changes in native ecosystem structure and function, and the breakdown of native biogeographic realms...

Climate anxiety is as newly recognised a phenomenon as is the neologism solastalgia. The word solastalgia was coined by the Australian environmental philosopher Glenn Albrecht; it is a composite of the concepts of solace and desolation, and the pain ('algia') derived from the immediate loss of or assault to one's place of residence (Albrecht 2005). It is different from nostalgia, which is the remembrance of times past, and it specifically refers to the mental distress caused by climate change of anthropogenic origin (Albrecht et al...

Rare diseases form the bulk of the financial expenditure of any developing or developed economy. Among the various rare diseases, paediatric neuromuscular disorders form a major portion, with a worldwide survey estimating a prevalence of 1 in 3500 individuals. In a lower middle-income country (LMIC) like India, malnutrition still accounts for most of the under-5 mortality. However, the economic burden of rare paediatric neuromuscular disorders cannot be underestimated. The treating physician should have a basic understanding of how to approach a child presenting with weakness and how to utilise the available tests which are affordable in an LMIC setting...

Screening strategies for cancer, the second largest cause of deaths, exist, but are invasive, cumbersome, and expensive. Many cancers lack viable screening modalities all together. Circulating tumor cell clusters (CTCCs) are seen during early stages of cancer and are larger than normal blood cells. Discrimination of such differential sizes by real-time ultrasound scanning of a blood vessel offers an attractive universal screening tool for cancer. Yeast colonies were grown to different sizes mimicking CTCCs and normal blood cells, using sugar and starch to incubate and sodium fluoride to arrest growth after specified times...

Seed and seedling traits govern plant fitness and persistence and are influenced by the interaction between the plant and its environment. Changing climatic and edaphic conditions will drastically affect early fitnessrelated traits and can alter the demography and species distribution range. It is widely documented that trait variation among populations may increase resilience of tree communities and reduce the risk of extinction under future climates. In the present study, variation in seed and seedling traits were documented from seven populations of Santalum album representing the natural distribution range of the species in the Indian subcontinent...

The cation diffusion facilitator (CDF) family of zinc transporters plays a crucial role in zinc homeostasis in eukaryotes, including fungi. Here, we investigated the cell functions and genetic interactions of CDF zinc transporters zrc -1 and msc -2 in Neurospora crassa . The Δ zrc -1 mutant could not grow in a high-zinc environment, indicating that the zinc transporter protein ZRC-1 was essential for growth in high-zinc conditions. However, the deletion of msc -2 did not show any severe phenotypic defects...

This study aims to develop fatty acid metabolism-related molecular subtypes and construct a fatty acid metabolism-related novel model for bladder cancer (BCa) by bioinformatic profiling. Genome RNA-seq expression data of BCa samples from the TCGA database and GEO database were downloaded. We then conducted consensus clustering analysis to identify fatty acid metabolism-related molecular subtypes for BCa. Univariate and multivariate Cox regression analysis were performed to identify a novel prognostic fatty acid metabolism-related prognostic model for BCa...

Compartmental models that dynamically divide the host population into categories such as susceptible, infected, and immune constitute the mainstream of epidemiological modelling. Effectively, such models treat infection and immunity as binary variables. We constructed an individual-based stochastic model that considers immunity as a continuous variable and incorporates factors that bring about small changes in immunity. The small immunity effects (SIE) comprise cross-immunity by other infections, small increments in immunity by subclinical exposures, and slow decay in the absence of repeated exposure...

Accumulated evidence implicates lipid peroxidation as a key mechanism contributing to the pathogenesis of lupus nephritis (LN). Ferroptosis is a specialized form of cell death induced by loss or deficient activity of the glutathione peroxidase 4 (GPX4) and decreased clearance of polyunsaturated fatty acid hydroperoxides. STING production may lead to the occurrence of intracellular lipid peroxidation, ultimately triggering ferroptosis, but it has not been clarified whether STING can aggravate LN via ferroptosis...