Profile of monogenic diabetes: a Pan-India study
Diabetes Res Clin Pract. 2025 Jun 2:112289. doi: 10.1016/j.diabres.2025.112289. Online ahead of print. ABSTRACT AIM: To evaluate the frequency of monogenic diabetes among individuals clinically suspected to have monogenic diabetes in India. METHODS: Participants (n = 774) were recruited from 65 diabetes centres across India (http://monogenicdiabetes.in/Collaborators.html). Inclusion criteria were: age at diagnosis of diabetes ≤30 […]
Impaired Compensatory Vasodilatory Effect Mediated by Wolfram Syndrome 1 and Corticotropin-Releasing Hormone Family Peptides in 17alpha-Ethynylestradiol-Induced Intrahepatic Cholestasis Pregnant Rats When Under Additional Acute Hypoxia Stress
Matern Fetal Med. 2021 Dec 15;4(1):7-16. doi: 10.1097/FM9.0000000000000137. eCollection 2022 Jan. ABSTRACT OBJECTIVE: To investigate the possible regulatory mechanism of corticotropin-releasing hormone (CRH), urocortin (UCN), and Wolfram syndrome 1 (WFS1) in 17α-ethynylestradiol (EE)-induced intrahepatic cholestasis pregnant rats and its ischemia reperfusion (IR) model. METHODS: Pregnant rats (n = 60) were randomly divided into four experimental […]
Proteomic profiling of pseudorabies virus-infected PK-15 cells based on 4D label free analysis
Vet Res Forum. 2025;16(3):141-147. doi: 10.30466/vrf.2024.2026963.4239. Epub 2025 Mar 15. ABSTRACT Pseudorabies virus (PRV) heavily depends on host machinery to support its life cycle. Investigating the interaction between PRV and host could aid in the understandings of viral pathogenesis. In this study, we performed a 4D label free proteomic method to examine the differentially expressed […]
Clinical trials for Wolfram syndrome neurodegeneration: Novel design, endpoints, and analysis models
PLoS One. 2025 May 9;20(5):e0321598. doi: 10.1371/journal.pone.0321598. eCollection 2025. ABSTRACT OBJECTIVE: Wolfram syndrome, an ultra-rare condition, currently lacks effective treatment options. The rarity of this disease presents significant challenges in conducting clinical trials, particularly in achieving sufficient statistical power (e.g., 80%). The objective of this study is to propose a novel clinical trial design based […]
Isolated and Syndromic Genetic Optic Neuropathies: A Review of Genetic and Phenotypic Heterogeneity
Int J Mol Sci. 2025 Apr 20;26(8):3892. doi: 10.3390/ijms26083892. ABSTRACT Nonsyndromic and syndromic hereditary optic neuropathies (HONs) encompass a variety of genetic illnesses that cause progressive optic nerve damage, resulting in considerable vision impairment. These disorders result from pathogenic variants in mitochondrial or nuclear DNA, impacting essential cellular processes like oxidative phosphorylation, mitochondrial dynamics, and […]
Gonadal function in males with WFS1 spectrum disorder (Wolfram syndrome)-A European cohort perspective
Andrology. 2025 Apr 29. doi: 10.1111/andr.70049. Online ahead of print. ABSTRACT BACKGROUND: WFS1 spectrum disorder, also known as Wolfram syndrome (WS) is an ultra-rare (<1:500,000; ORPHA: 3463) monogenic (OMIM #222300) progressive neuroendocrine and neurodegenerative disorder, characterised by early-onset insulin-dependent diabetes, optic atrophy, central diabetes insipidus and sensi-neuronal deafness. It is caused predominantly by bi-allelic mutations […]
Clinical manifestations of dual-gene variants involving ABCA4 in retinal dystrophies
BMC Ophthalmol. 2025 Apr 23;25(1):239. doi: 10.1186/s12886-025-04048-1. ABSTRACT BACKGROUND: This study investigates the clinical manifestations of inherited retinal diseases (IRD) associated with dual-gene variant constellations involving biallelic ABCA4 variants. METHODS: We assess four cases for their unique phenotypic outcomes due to biallelic ABCA4 variants and additional genotypes in CACNA1F, IMPG1, HK1 and MYO7A, respectively. RESULTS: […]
Improving mitochondria-associated endoplasmic reticulum membranes integrity as converging therapeutic strategy for rare neurodegenerative diseases and cancer
Biochim Biophys Acta Mol Cell Res. 2025 Apr 9:119954. doi: 10.1016/j.bbamcr.2025.119954. Online ahead of print. ABSTRACT Membrane contact sites harbor a distinct set of proteins with varying biological functions, thereby emerging as hubs for localized signaling nanodomains underlying adequate cell function. Here, we will focus on mitochondria-associated endoplasmic reticulum membranes (MAMs), which serve as hotspots […]
Liraglutide treatment reverses unconventional cellular defects in induced pluripotent stem cell-derived β cells harboring a partially functional WFS1 variant
Diabetes. 2025 Apr 9:db240720. doi: 10.2337/db24-0720. Online ahead of print. ABSTRACT Wolfram Syndrome 1 (WS1) is a rare genetic disorder caused by WFS1 variants that disrupt Wolframin, an endoplasmic reticulum-associated protein essential for cellular stress responses, Ca2+ homeostasis, and autophagy. Here, we investigated how the c.316-1G>A and c.757A>T WFS1 mutations, which yield partially functional Wolframin, […]
Wolfram syndrome 2 gene (CISD2) deficiency disrupts Ca(2+)-mediated insulin secretion in beta-cells
Mol Metab. 2025 Apr 4:102140. doi: 10.1016/j.molmet.2025.102140. Online ahead of print. ABSTRACT OBJECTIVES: Diabetes, characterized by childhood-onset, autoantibody-negativity and insulin-deficiency, is a major manifestation of Wolfram syndrome 2 (WFS2), which is caused by recessive mutations of CISD2. Nevertheless, the mechanism underlying β-cell dysfunction in WFS2 remains elusive. Here we delineate the essential role of CISD2 […]