Comprehensive overview of disease models for Wolfram syndrome: toward effective treatments

Mamm Genome. 2024 Feb 13. doi: 10.1007/s00335-023-10028-x. Online ahead of print. ABSTRACT Wolfram syndrome (OMIM 222300) is a rare autosomal recessive disease with a devastating array of symptoms, including diabetes mellitus, optic nerve atrophy, diabetes insipidus, hearing loss, and neurological dysfunction. The discovery of the causative gene, WFS1, has propelled research on this disease. However, […]

ISR inhibition reverses pancreatic β-cell failure in Wolfram syndrome models

Cell Death Differ. 2024 Feb 6. doi: 10.1038/s41418-024-01258-w. Online ahead of print. ABSTRACT Pancreatic β-cell failure by WFS1 deficiency is manifested in individuals with wolfram syndrome (WS). The lack of a suitable human model in WS has impeded progress in the development of new treatments. Here, human pluripotent stem cell derived pancreatic islets (SC-islets) harboring […]

Wolfram-like syndrome: a case report

Zhonghua Yan Ke Za Zhi. 2024 Feb 11;60(2):180-184. doi: 10.3760/cma.j.cn112142-20231213-00288. ABSTRACT Different from classical autosomal recessive Wolfram syndrome, Wolfram-like syndrome is an autosomal dominant disorder caused by a heterozygous mutation in the WFS1 gene. In this case, a 7-year-old male child presented to the eye clinic due to vision loss that could not be corrected, […]

Neuroimaging features in Wolfram syndrome type 1

Neurol Sci. 2024 Jan 31. doi: 10.1007/s10072-024-07352-8. Online ahead of print. ABSTRACT Wolfram syndrome type 1 is a rare autosomal recessive genetic disorder which is characterized by the co-existence of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness, and hence is also referred to as the acronym DIDMOAD. In this neuroimage, the typical neuroimaging features […]

Whole-exome sequencing reveals novel variants of monogenic diabetes in Tunisia: impact on diagnosis and healthcare management

Front Genet. 2023 Dec 14;14:1224284. doi: 10.3389/fgene.2023.1224284. eCollection 2023. ABSTRACT Introduction: Monogenic diabetes (MD) accounts for 3%-6% of all cases of diabetes. This prevalence is underestimated due to its overlapping clinical features with type 1 and type 2 diabetes. Hence, genetic testing is the most appropriate tool for obtaining an accurate diagnosis. In Tunisia, few […]

Overlap between ophthalmology and psychiatry – A narrative review focused on congenital and inherited conditions

Psychiatry Res. 2023 Nov 25;331:115629. doi: 10.1016/j.psychres.2023.115629. Online ahead of print. ABSTRACT A number of congenital and inherited diseases present with both ocular and psychiatric features. The genetic inheritance and phenotypic variants play a key role in disease severity. Early recognition of the signs and symptoms of those disorders is critical to earlier intervention and […]

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: […]