OBSESSIVE COMPULSIVE DISORDER AND CONSTITUTIONAL DELAY OF GROWTH AND PUBERTY IN WOLFRAM SYNDROME: NEW ASPECTS AND A NOVEL WFS1 MUTATION
Acta Endocrinol (Buchar). 2024 Jan-Mar;20(1):107-112. doi: 10.4183/aeb.2024.107. Epub 2024 Oct 3. ABSTRACT INTRODUCTION: Wolfram Syndrome (WS) is a rare autosomal recessively inherited disorder characterized by juvenile-onset diabetes mellitus (DM), diabetes insipidus, optic atrophy (OA), hearing loss and neurodegeneration. This report describes three cases with WS. CASE REPORT: The first case was diagnosed with DM and […]
CISD2 counteracts the inhibition of ER-mitochondrial calcium transfer by anti-apoptotic BCL-2
Biochim Biophys Acta Mol Cell Res. 2024 Oct 4:119857. doi: 10.1016/j.bbamcr.2024.119857. Online ahead of print. ABSTRACT CISD2, a 2Fe2S cluster domain-containing protein, is implicated in Wolfram syndrome type 2, longevity and cancer. CISD2 is part of a ternary complex with IP3 receptors (IP3Rs) and anti-apoptotic BCL-2 proteins and enhances BCL-2’s anti-autophagic function. Here, we examined […]
Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy
Sci Rep. 2024 Oct 3;14(1):22956. doi: 10.1038/s41598-024-74364-x. ABSTRACT This study aims to describe the ophthalmic characteristics of autosomal dominant (AD) WFS1-associated optic atrophy (AD WFS1-OA), and to explore phenotypic differences with dominant optic atrophy (DOA) caused by mutations in the OPA1-gene. WFS1-associated diseases, or ‘wolframinopathies’, exhibit a spectrum of ocular and systemic phenotypes, of which […]
Clinical Trials for Wolfram Syndrome Neurodegeneration: Novel Design, Endpoints, and Analysis Models
medRxiv [Preprint]. 2024 Sep 11:2024.09.10.24313426. doi: 10.1101/2024.09.10.24313426. ABSTRACT OBJECTIVE: Wolfram syndrome, an ultra-rare condition, currently lacks effective treatment options. The rarity of this disease presents significant challenges in conducting clinical trials, particularly in achieving sufficient statistical power (e.g., 80%). The objective of this study is to propose a novel clinical trial design based on real-world […]
Early presentation of urological abnormalities in a case of Wolfram syndrome
BMJ Case Rep. 2024 Sep 20;17(9):e260822. doi: 10.1136/bcr-2024-260822. ABSTRACT Wolfram syndrome (WS) is a rare autosomal recessive neurodegenerative disorder characterised by arginine vasopressin deficiency (AVP-D), juvenile type 1 diabetes mellitus (DM), optic atrophy (OA) and deafness. We describe an early adolescent female child being managed initially as a case of juvenile type 1 DM presented […]
Images in sleep medicine sleep-disordered breathing in Wolfram’s syndrome – A near-fatal event
Sleep Med. 2024 Sep 12;124:106-109. doi: 10.1016/j.sleep.2024.09.012. Online ahead of print. ABSTRACT Wolfram syndrome (WS) is a rare autosomal-recessive genetic disorder. The authors report a case of a patient with WS and undiagnosed/untreated obstructive sleep apnea (OSA) associated with prolonged periods of apnea and hypopnea and nocturnal hypoxemia, which may have predisposed him to the […]
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 […]