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 […]
Clinical management and obstetric outcome in WFS1 Wolfram syndrome spectrum disorder: A case report and literature review
Taiwan J Obstet Gynecol. 2023 May;62(3):440-443. doi: 10.1016/j.tjog.2022.12.011. ABSTRACT OBJECTIVE: Wolfram Syndrome (WS) is a rare autosomal recessive neurodegenerative disorder caused by mutations in WFS1 or CISD2 (WFS2). We present a rare case report of pregnancy with WFS1 spectrum disorder (WFS1-SD) in our hospital and reviewed literature to provide the management of pregnancy in these […]
Wolfram syndrome: new pathophysiological insights and therapeutic strategies
Ther Adv Rare Dis. 2021 Aug 16;2:26330040211039518. doi: 10.1177/26330040211039518. eCollection 2021 Jan-Dec. ABSTRACT Wolfram Syndrome (WS) is an ultra-rare, progressive neurodegenerative disease characterized by early-onset diabetes mellitus and irreversible loss of vision, secondary to optic nerve degeneration. Visual loss in WS is an important cause of registrable blindness in children and young adults and the […]
Depletion of WFS1 compromises mitochondrial function in hiPSC-derived neuronal models of Wolfram syndrome
Stem Cell Reports. 2023 May 9;18(5):1090-1106. doi: 10.1016/j.stemcr.2023.04.002. ABSTRACT Mitochondrial dysfunction involving mitochondria-associated ER membrane (MAM) dysregulation is implicated in the pathogenesis of late-onset neurodegenerative diseases, but understanding is limited for rare early-onset conditions. Loss of the MAM-resident protein WFS1 causes Wolfram syndrome (WS), a rare early-onset neurodegenerative disease that has been linked to mitochondrial […]
Rescue of Long-Term Spatial Memory by 7,8-Dihydroxyflavone in Mice with Reduced Oligodendrogenesis
eNeuro. 2023 May 5;10(5):ENEURO.0498-22.2023. doi: 10.1523/ENEURO.0498-22.2023. Print 2023 May. ABSTRACT Oligodendrogenesis is the process by which new oligodendrocytes are produced in the CNS. Oligodendrocytes form myelin, which has a vital role in neural signal transmission and integration. Here we tested mice with reduced adult oligodendrogenesis in the Morris water maze, a test of spatial learning. […]
Chronic Stress Alters Hippocampal Renin-Angiotensin-Aldosterone System Component Expression in an Aged Rat Model of Wolfram Syndrome
Genes (Basel). 2023 Mar 30;14(4):827. doi: 10.3390/genes14040827. ABSTRACT Biallelic mutations in the gene encoding WFS1 underlie the development of Wolfram syndrome (WS), a rare neurodegenerative disorder with no available cure. We have previously shown that Wfs1 deficiency can impair the functioning of the renin-angiotensin-aldosterone system (RAAS). The expression of two key receptors, angiotensin II receptor […]
Wfs1 loss-of-function disrupts the composition of mouse pancreatic endocrine cells from birth and impairs Glut2 localization to cytomembrane in pancreatic β cells
Biochem Biophys Res Commun. 2023 May 28;658:80-87. doi: 10.1016/j.bbrc.2023.03.074. Epub 2023 Mar 31. ABSTRACT Wfs1 is an endoplasmic reticulum (ER) membrane located protein highly expressed in pancreatic β cells and brain. Wfs1 deficiency causes adult pancreatic β cells dysfunction following β cells apoptosis. Previous studies mainly focus on the Wfs1 function in adult mouse pancreatic […]
GLP1 receptor agonists for Wolfram syndrome?
Nat Rev Endocrinol. 2023 Apr 19. doi: 10.1038/s41574-023-00839-y. Online ahead of print. NO ABSTRACT PMID:37076572 | DOI:10.1038/s41574-023-00839-y
WFS1 autosomal dominant variants linked with hearing loss: update on structural analysis and cochlear implant outcome
BMC Med Genomics. 2023 Apr 11;16(1):79. doi: 10.1186/s12920-023-01506-x. ABSTRACT BACKGROUND: Wolfram syndrome type 1 gene (WFS1), which encodes a transmembrane structural protein (wolframin), is essential for several biological processes, including proper inner ear function. Unlike the recessively inherited Wolfram syndrome, WFS1 heterozygous variants cause DFNA6/14/38 and wolfram-like syndrome, characterized by autosomal dominant nonsyndromic hearing loss, […]