Wolfram syndrome 1 regulates sleep in dopamine receptor neurons by modulating calcium homeostasis
PLoS Genet. 2023 Jul 3;19(7):e1010827. doi: 10.1371/journal.pgen.1010827. Online ahead of print. ABSTRACT Sleep disruptions are quite common in psychological disorders, but the underlying mechanism remains obscure. Wolfram syndrome 1 (WS1) is an autosomal recessive disease mainly characterized by diabetes insipidus/mellitus, neurodegeneration and psychological disorders. It is caused by loss-of function mutations of the WOLFRAM SYNDROME […]
Wfs1E864K knock-in mice illuminate the fundamental role of Wfs1 in endocochlear potential production
Cell Death Dis. 2023 Jun 29;14(6):387. doi: 10.1038/s41419-023-05912-y. ABSTRACT Wolfram syndrome (WS) is a rare neurodegenerative disorder encompassing diabetes mellitus, diabetes insipidus, optic atrophy, hearing loss (HL) as well as neurological disorders. None of the animal models of the pathology are presenting with an early onset HL, impeding the understanding of the role of Wolframin […]
Paediatric Wolfram syndrome Type 1: should gonadal dysfunction be part of the diagnostic criteria?
Front Endocrinol (Lausanne). 2023 Jun 13;14:1155644. doi: 10.3389/fendo.2023.1155644. eCollection 2023. ABSTRACT AIMS: Wolfram Syndrome Spectrum Disorder (WFS1-SD), in its “classic” form, is a rare autosomal recessive disease with poor prognosis and wide phenotypic spectrum. Insulin dependent diabetes mellitus (DM), optic atrophy (OA) diabetes insipidus (DI) and sensorineural deafness (D) are the main features of WFS1-SD. […]
Culprit plaque morphology determines inflammatory risk and clinical outcomes in acute coronary syndrome
Eur Heart J. 2023 Jun 29:ehad334. doi: 10.1093/eurheartj/ehad334. Online ahead of print. ABSTRACT AIMS: Rupture of the fibrous cap (RFC) and erosion of an intact fibrous cap (IFC) are the two predominant mechanisms causing acute coronary syndromes (ACS). It is uncertain whether clinical outcomes are different following RFC-ACS vs. IFC-ACS and whether this is affected […]
GLP-1 receptor agonists as promising disease-modifying agents in WFS1 spectrum disorder
Front Clin Diabetes Healthc. 2023 Jun 2;4:1171091. doi: 10.3389/fcdhc.2023.1171091. eCollection 2023. ABSTRACT WFS1 spectrum disorder (WFS1-SD) is a rare monogenic neurodegenerative disorder whose cardinal symptoms are childhood-onset diabetes mellitus, optic atrophy, deafness, diabetes insipidus, and neurological signs ranging from mild to severe. The prognosis is poor as most patients die prematurely with severe neurological disabilities […]
Repetitive Suicidal Behaviors in a Case With a New Mutation of Wolfram Syndrome: A Jump From the Gene to the Behavior
Basic Clin Neurosci. 2022 Nov-Dec;13(6):893-900. doi: 10.32598/bcn.2021.910.3. Epub 2022 Nov 1. ABSTRACT Wolfram syndrome (WS) is a rare autosomal recessive neurodegenerative disease with variable symptoms, including neuropsychiatric manifestations. A 26-year-old man was reported with classic symptoms of WS and repetitive psychiatric hospitalizations and at least 16 suicidal attempts. The genetic study demonstrated a novel homozygous […]
Targeting Ca2+-dependent pathways to promote corneal epithelial wound healing induced by CISD2 deficiency
Cell Signal. 2023 Jun 12:110755. doi: 10.1016/j.cellsig.2023.110755. Online ahead of print. ABSTRACT Chronic epithelial defects of the cornea, which are usually associated with severe dry eye disease, diabetes mellitus, chemical injuries or neurotrophic keratitis, as well as aging, are an unmet clinical need. CDGSH Iron Sulfur Domain 2 (CISD2) is the causative gene for Wolfram […]
Peculiar Outer Plexiform Layer in Autosomal Dominant Wolfram Syndrome
Ophthalmol Retina. 2023 Jun 9:S2468-6530(23)00226-9. doi: 10.1016/j.oret.2023.05.015. Online ahead of print. NO ABSTRACT PMID:37306650 | DOI:10.1016/j.oret.2023.05.015
The genetic and clinical characteristics of WFS1 related diabetes in Chinese early onset type 2 diabetes
Sci Rep. 2023 Jun 5;13(1):9127. doi: 10.1038/s41598-023-36334-7. ABSTRACT Diabetes is one of the most common phenotypes of Wolfram syndrome owing to the presence of the variants of the WFS1 gene and is often misdiagnosed as other types of diabetes. We aimed to explore the prevalence of WFS1-related diabetes (WFS1-DM) and its clinical characteristics in a […]
Next Generation Sequencing (NGS) Target Approach for Undiagnosed Dysglycaemia
Life (Basel). 2023 Apr 24;13(5):1080. doi: 10.3390/life13051080. ABSTRACT Next-generation sequencing (NGS) has revolutionized the field of genomics and created new opportunities for basic research. We described the strategy for the NGS validation of the “dysglycaemia panel” composed by 44 genes related to glucose metabolism disorders (MODY, Wolfram syndrome) and familial renal glycosuria using Ion AmpliSeq […]