Convolamine, a tropane alkaloid extracted from Convolvulus plauricalis, is a potent sigma-1 receptor-positive modulator with cognitive and neuroprotective properties

Phytother Res. 2023 Nov 27. doi: 10.1002/ptr.8068. Online ahead of print. ABSTRACT BACKGROUND AND AIM: By using an in vivo phenotypic screening assay in zebrafish, we identified Convolamine, a tropane alkaloid from Convulvus plauricalis, as a positive modulator of the sigma-1 receptor (S1R). The wfs1abKO zebrafish larva, a model of Wolfram syndrome, exhibits an increased […]

Wolfram syndrome type 1: a case series

Orphanet J Rare Dis. 2023 Nov 16;18(1):359. doi: 10.1186/s13023-023-02938-5. ABSTRACT BACKGROUND: Wolfram syndrome (WS) is a rare autosomal recessive multisystem neurodegenerative disease characterized by non-autoimmune insulin-dependent diabetes mellitus, optic atrophy, sensorineural deafness, and diabetes as the main features. Owing to clinical phenotypic heterogeneity, the misdiagnosis rate is high. However, early accurate diagnosis and comprehensive management […]

High frequency of recessive WFS1 mutations among Indian children with islet antibody-negative type 1 diabetes

J Clin Endocrinol Metab. 2023 Nov 1:dgad644. doi: 10.1210/clinem/dgad644. Online ahead of print. ABSTRACT BACKGROUND: While the frequency of islet antibody-negative (idiopathic) type 1 diabetes mellitus (T1DM) is reported to be increased in Indian children, its aetiology is not studied. We investigated the role of monogenic diabetes in the causation of islet antibody-negative T1DM. METHODS: […]

Wolfram Syndrome: A Curious Case of Repetitive Loss of Consciousness

Cureus. 2023 Oct 3;15(10):e46426. doi: 10.7759/cureus.46426. eCollection 2023 Oct. ABSTRACT Wolfram syndrome is a rare, multisystemic, progressive, and autosomal-recessive genetic disease, characterized by diabetes mellitus and diabetes insipidus, optic nerve atrophy, deafness, and other neurological signs. The diagnosis is usually based on history and clinical manifestations but genetic tests are necessary for confirmation. Currently, there […]

Treatment with the dual-incretin agonist DA-CH5 demonstrates potent therapeutic effect in a rat model of Wolfram Syndrome

Front Endocrinol (Lausanne). 2023 Oct 13;14:1234925. doi: 10.3389/fendo.2023.1234925. eCollection 2023. ABSTRACT AIM: Wolfram Syndrome (WS) is a rare condition caused by mutations in Wfs1, with a poor prognosis and no cure. Mono-agonists targeting the incretin glucagon-like-peptide 1 (GLP-1) have demonstrated disease-modifying potential in pre-clinical and clinical settings. Dual agonists that target GLP-1 and glucose-dependent insulinotropic […]

Elevated intraneural vascularization of the median nerve proximal to the arteriovenous fistula in hemodialysis patients suspected of carpal tunnel syndrome: A case series

Hemodial Int. 2023 Oct 23. doi: 10.1111/hdi.13123. Online ahead of print. ABSTRACT Patients with end-stage kidney disease may require creation of an arteriovenous fistula in order to receive hemodialysis treatment. The creation may result in several complications, including carpal tunnel syndrome. Early diagnosis and treatment are essential to relieve symptoms, prevent permanent nerve damage, and […]

The miR-668 binding site variant rs1046322 on WFS1 is associated with obesity in Southeast Asians

Front Endocrinol (Lausanne). 2023 Oct 4;14:1185956. doi: 10.3389/fendo.2023.1185956. eCollection 2023. ABSTRACT The Wolfram syndrome 1 gene (WFS1) is the main causative locus for Wolfram syndrome, an inherited condition characterized by childhood-onset diabetes mellitus, optic atrophy, and deafness. Global genome-wide association studies have listed at least 19 WFS1 variants that are associated with type 2 diabetes […]

Dopamine D2 receptors in WFS1-neurons regulate food-seeking and avoidance behaviors

Prog Neuropsychopharmacol Biol Psychiatry. 2023 Oct 17:110883. doi: 10.1016/j.pnpbp.2023.110883. Online ahead of print. ABSTRACT The selection and optimization of appropriate adaptive responses depends on interoceptive and exteroceptive stimuli as well as on the animal’s ability to switch from one behavioral strategy to another. Although growing evidence indicate that dopamine D2R-mediated signaling events ensure the selection […]

Genomics of Wolfram Syndrome 1 (WFS1)

Biomolecules. 2023 Sep 4;13(9):1346. doi: 10.3390/biom13091346. ABSTRACT Wolfram Syndrome (WFS) is a rare, autosomal, recessive neurogenetic disorder that affects many organ systems. It is characterised by diabetes insipidus, diabetes mellites, optic atrophy, and deafness and, therefore, is also known as DIDMOAD. Nearly 15,000-30,000 people are affected by WFS worldwide, and, on average, patients suffering from […]