Endoplasmic reticulum-mitochondria lockdown in Wolfram syndrome
Cell Calcium. 2024 Sep 12;124:102955. doi: 10.1016/j.ceca.2024.102955. Online ahead of print. ABSTRACT Wolfram syndrome (WS) is an incurable autosomal recessive disorder originally described as a mitochondriopathy. In a recent work, Liiv and colleagues found that an impaired endoplasmic reticulum (ER)-to-mitochondria calcium shuttling underlies mitochondrial dysfunction in WS models. PMID:39278009 | DOI:10.1016/j.ceca.2024.102955
Discovery of a TRMT10A mutation in a case of atypical diabetes: case report
Diabetes Metab. 2024 Sep 5:101572. doi: 10.1016/j.diabet.2024.101572. Online ahead of print. ABSTRACT It is notable that monogenic forms of diabetes are exceedingly uncommon, with only 28 genes thus far identified. Such conditions frequently result in the dysfunction of pancreatic cells responsible for insulin production. Mutation in the TRMT10A gene leads to a rare genetic disease […]
Novel WFS1 variants are associated with different diabetes phenotypes
Front Genet. 2024 Aug 16;15:1433060. doi: 10.3389/fgene.2024.1433060. eCollection 2024. ABSTRACT BACKGROUND: The WFS1 gene encodes the protein wolframin, which is crucial for maintaining endoplasmic reticulum homeostasis. Variants in this gene are predominantly associated with Wolfram syndrome and have been implicated in other disorders such as diabetes mellitus and psychiatric diseases, which increases the rate of […]
Wolfram Syndrome 1: A Neuropsychiatric Perspective on a Rare Disease
Genes (Basel). 2024 Jul 25;15(8):984. doi: 10.3390/genes15080984. ABSTRACT Wolfram syndrome 1 (WS1) is an uncommon autosomal recessive neurological disorder that is characterized by diabetes insipidus, early-onset non-autoimmune diabetes mellitus, optic atrophy, and deafness (DIDMOAD). Other clinical manifestations are neuropsychiatric symptoms, urinary tract alterations, and endocrinological disorders. The rapid clinical course of WS1 results in death […]
Clinical Characteristics and Audiological Profiles of Patients with Pathogenic Variants of WFS1
J Clin Med. 2024 Aug 16;13(16):4851. doi: 10.3390/jcm13164851. ABSTRACT Background: Mutations in Wolfram syndrome 1 (WFS1) cause Wolfram syndrome and autosomal dominant non-syndromic hearing loss DFNA6/14/38. To date, more than 300 pathogenic variants of WFS1 have been identified. Generally, the audiological phenotype of Wolfram syndrome or DFNA6/14/38 is characterized by low-frequency hearing loss; however, this […]
A deep phenotyping study in mouse and iPSC models to understand the role of oligodendroglia in optic neuropathy in Wolfram syndrome
Acta Neuropathol Commun. 2024 Aug 28;12(1):140. doi: 10.1186/s40478-024-01851-7. ABSTRACT Wolfram syndrome (WS) is a rare childhood disease characterized by diabetes mellitus, diabetes insipidus, blindness, deafness, neurodegeneration and eventually early death, due to autosomal recessive mutations in the WFS1 (and WFS2) gene. While it is categorized as a neurodegenerative disease, it is increasingly becoming clear that […]
Immunoinformatic-based drug design utilizing hesperetin to target CISD2 activation for liver aging in humans
Biogerontology. 2024 Aug 28. doi: 10.1007/s10522-024-10130-w. Online ahead of print. ABSTRACT The CISD protein family, consisting of CISD1, CISD2, and CISD3, encodes proteins that feature CDGSH iron-sulfur domains crucial for cellular functions and share a common 2Fe-2S domain. CISD2, which is pivotal in cells, regulates intracellular calcium levels, maintains the endoplasmic reticulum and mitochondrial function, […]
Beyond Vision and Hearing: A Case Report of Wolfram Syndrome
Cureus. 2024 Jul 22;16(7):e65107. doi: 10.7759/cureus.65107. eCollection 2024 Jul. ABSTRACT Wolfram syndrome (WFS) is an uncommon autosomal recessive neurodegenerative disorder characterized by diabetes mellitus, diabetes insipidus, optic nerve degeneration, hearing impairment, and other abnormalities. Additionally, a portion of individuals experience neurological, endocrine, behavioral, and urinary tract disorders that make management more challenging. Here, we present […]
Continuous glycemic monitoring in managing diabetes in adult patients with wolfram syndrome
Acta Diabetol. 2024 Aug 3. doi: 10.1007/s00592-024-02350-w. Online ahead of print. ABSTRACT AIMS: In this study we evaluated the use of Continuous Glucose Monitoring system in adults with insulin-dependent diabetes in the course of Wolfram syndrome (WFS) in comparison to patients with type 1 diabetes (T1D). METHODS: Individuals with WFS (N = 10) used continuous […]
Family Planning in Genetic Optic Atrophies in Israel, a Case Series and a Discussion of Ethical Considerations
J Neuroophthalmol. 2024 Jul 31. doi: 10.1097/WNO.0000000000002232. Online ahead of print. ABSTRACT BACKGROUND: Patients with genetic optic atrophies must navigate all stages of life with their visual impairment, including the important milestone of family planning. Advances in genetic testing now allows physicians and affected families to consider medical help with the aim of preventing blindness […]