β-cyclodextrin based nano gene delivery using pharmaceutical applications to treat Wolfram syndrome
Ther Deliv. 2022 Sep;13(9):449-462. doi: 10.4155/tde-2022-0036. Epub 2023 Feb 7. ABSTRACT Wolfram syndrome is a rare multisystem autosomal recessive neurodegenerative disorder that affects the brain and central nervous system. Currently, there is no cure or treatment for Wolfram syndrome. Therefore, new techniques are needed to target the loss of the WFS1 gene. Gene therapy approach […]
Endoplasmic reticulum stress inhibition ameliorated WFS1 expression alterations and reduced pancreatic islets’ insulin secretion induced by high-fat diet in rats
Sci Rep. 2023 Feb 1;13(1):1860. doi: 10.1038/s41598-023-28329-1. ABSTRACT Endoplasmic reticulum (ER) stress is involved in the development of glucose homeostasis impairment. When ER stress occurs, the unfolded protein response (UPR) is activated to cope with it. One of the UPR components is WFS1 (Wolfram syndrome 1), which plays important roles in ER homeostasis and pancreatic […]
Psychiatric Diagnoses and Medications in Wolfram Syndrome
Scand J Child Adolesc Psychiatr Psychol. 2022 Dec 31;10(1):163-174. doi: 10.2478/sjcapp-2022-0017. eCollection 2022 Jan. ABSTRACT BACKGROUND: Wolfram Syndrome is a rare genetic disorder usually resulting from pathogenic variation in the WFS1 gene, which leads to an exaggerated endoplasmic reticulum (ER) stress response. The disorder is typically characterized by diabetes insipidus, diabetes mellitus, optic nerve atrophy, […]
MCT1-dependent energetic failure and neuroinflammation underlie optic nerve degeneration in Wolfram syndrome mice
Elife. 2023 Jan 16;12:e81779. doi: 10.7554/eLife.81779. ABSTRACT Wolfram syndrome 1 (WS1) is a rare genetic disorder caused by mutations in the WFS1 gene leading to a wide spectrum of clinical dysfunctions, among which blindness, diabetes, and neurological deficits are the most prominent. WFS1 encodes for the endoplasmic reticulum (ER) resident transmembrane protein wolframin with multiple […]
A Pair of Siblings With Wolfram Syndrome: A Review of the Literature and Treatment Options
J Investig Med High Impact Case Rep. 2023 Jan-Dec;11:23247096221150631. doi: 10.1177/23247096221150631. ABSTRACT Wolfram syndrome (WS) is a rare genetic disorder typically characterized by juvenile onset diabetes mellitus, optic atrophy, hearing loss, diabetes insipidus, and neurodegeneration. There would be a high index of clinical suspicion for WS when clinical manifestations of type 1 diabetes and optic […]
Delineating Wolfram-like syndrome: A systematic review and discussion of the WFS1-associated disease spectrum
Surv Ophthalmol. 2023 Feb 8:S0039-6257(23)00035-8. doi: 10.1016/j.survophthal.2023.01.012. Online ahead of print. ABSTRACT Wolfram-like syndrome (WFLS) is a recently described autosomal dominant disorder with phenotypic similarities to autosomal recessive Wolfram syndrome (WS), including optic atrophy, hearing impairment, and diabetes mellitus. We summarize current literature, define the clinical characteristics, and investigate potential genotype phenotype correlations. A systematic […]
Modeling disrupted synapse formation in wolfram syndrome using hESCs-derived neural cells and cerebral organoids identifies Riluzole as a therapeutic molecule
Mol Psychiatry. 2023 Feb 7. doi: 10.1038/s41380-023-01987-3. Online ahead of print. ABSTRACT Dysregulated neurite outgrowth and synapse formation underlie many psychiatric disorders, which are also manifested by wolfram syndrome (WS). Whether and how the causative gene WFS1 deficiency affects synapse formation remain elusive. By mirroring human brain development with cerebral organoids, WFS1-deficient cerebral organoids not […]
Wolfram Syndrome 1: A Pediatrician’s and Pediatric Endocrinologist’s Perspective
Int J Mol Sci. 2023 Feb 12;24(4):3690. doi: 10.3390/ijms24043690. ABSTRACT Wolfram syndrome 1 (WS1) is a rare autosomal recessive neurodegenerative disease caused by mutations in WFS1 and WFS2 genes that produce wolframin, a protein involved in endoplasmic reticulum calcium homeostasis and cellular apoptosis. Its main clinical features are diabetes insipidus (DI), early-onset non-autoimmune insulin-dependent diabetes […]
Genotype and Clinical Characteristics of Patients with Wolfram Syndrome and WFS1-related Disorders
medRxiv. 2023 Feb 16:2023.02.15.23284904. doi: 10.1101/2023.02.15.23284904. Preprint. ABSTRACT OBJECTIVE: Wolfram syndrome (WFS) is an autosomal recessive disorder associated with juvenile-onset diabetes mellitus, optic atrophy, diabetes insipidus, and sensorineural hearing loss. We sought to elucidate the relationship between genotypic and phenotypic presentations of Wolfram syndrome which would assist clinicians in classifying the severity and prognosis of […]
Case Report: A novel mutation in WFS1 gene (c.1756G>A p.A586T) is responsible for early clinical features of cognitive impairment and recurrent ischemic stroke
Front Genet. 2023 Feb 2;14:1072978. doi: 10.3389/fgene.2023.1072978. eCollection 2023. ABSTRACT Wolfram syndrome 1 (WFS1) gene mutations can be dominantly or recessively inherited, and the onset of the clinical picture is highly heterogeneity in both appearance and degree of severity. Different types of WFS1 mutations have been identified. Autosomal recessive mutations in the WFS1 gene will […]