Myocardial infarction augments sleep to limit cardiac inflammation and damage
Nature. 2024 Oct 30. doi: 10.1038/s41586-024-08100-w. Online ahead of print. ABSTRACT Sleep is integral to cardiovascular health1,2. Yet, the circuits that connect cardiovascular pathology and sleep are incompletely understood. It remains unclear whether cardiac injury influences sleep and whether sleep-mediated neural outputs contribute to heart healing and inflammation. Here we report that in humans and […]
A novel (-)-(2S)-7,4′-dihydroxyflavanone compound for treating age-related diabetes mellitus through immunoinformatics-guided activation of CISD3
Biogerontology. 2024 Oct 29;26(1):5. doi: 10.1007/s10522-024-10147-1. ABSTRACT The iron-sulfur domain (CISD) proteins of CDGSH are classified into three classes: CISD1, CISD2, and CISD3. During premature ageing, mutations that affect these proteins, namely their binding sites, could result in reduced protein production and an inability to preserve cellular integrity. Consequently, this leads to the development of […]
Good cochlear implantation outcomes in subjects with mono-allelic WFS1-associated sensorineural hearing loss – a case series
Int J Audiol. 2024 Oct 18:1-9. doi: 10.1080/14992027.2024.2411579. Online ahead of print. ABSTRACT OBJECTIVE: This study aimed to evaluate long-term cochlear implant (CI) outcomes in individuals with mono-allelic pathogenic variants in WFS1, which is associated with both Wolfram-like syndrome and DFNA6/14/38. DESIGN: Retrospective case series. STUDY SAMPLE: Seven CI recipients, ranging from eight months to […]
Insights from a Wolfram syndrome cohort: clinical and molecular findings from a specialized diabetes reference center
Arch Endocrinol Metab. 2024 Sep 24;68:e240091. doi: 10.20945/2359-4292-2024-0091. eCollection 2024. ABSTRACT OBJECTIVE: Considering the rarity and clinical and molecular diversity of Wolfram syndrome (WS), the objective of this study was to identify patients with a clinical presentation suggestive of WS following up at a single Brazilian diabetes service and analyze their clinical and molecular characteristics. […]
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 […]