Wolfram Syndrome Type I Case Report and Review-Focus on Early Diagnosis and Genetic Variants
Medicina (Kaunas). 2024 Jun 28;60(7):1064. doi: 10.3390/medicina60071064. ABSTRACT Background and Objectives: Wolfram syndrome type 1 (OMIM# 222300; ORPHAcode 3463) is an extremely rare autosomal recessive syndrome with a 25% recurrence risk in children. It is characterized by the presence of juvenile-onset diabetes mellitus (DM), progressive optic atrophy (OA), diabetes insipidus (DI), and sensorineural deafness (D), […]
ER calcium depletion as a key driver for impaired ER-to-mitochondria calcium transfer and mitochondrial dysfunction in Wolfram syndrome
Nat Commun. 2024 Jul 21;15(1):6143. doi: 10.1038/s41467-024-50502-x. ABSTRACT Wolfram syndrome is a rare genetic disease caused by mutations in the WFS1 or CISD2 gene. A primary defect in Wolfram syndrome involves poor ER Ca2+ handling, but how this disturbance leads to the disease is not known. The current study, performed in primary neurons, the most […]
Identification of unique cell type responses in pancreatic islets to stress
Nat Commun. 2024 Jul 2;15(1):5567. doi: 10.1038/s41467-024-49724-w. ABSTRACT Diabetes involves the death or dysfunction of pancreatic β-cells. Analysis of bulk sequencing from human samples and studies using in vitro and in vivo models suggest that endoplasmic reticulum and inflammatory signaling play an important role in diabetes progression. To better characterize cell type-specific stress response, we […]
Sequential Presentation of Obsessive-Compulsive Disorder and Narcolepsy in a 10-Year-Old Girl With Wolfram Syndrome 1
J Nerv Ment Dis. 2024 Jul 1;212(7):403-405. doi: 10.1097/NMD.0000000000001784. ABSTRACT Wolfram syndrome 1 (WS1) is a rare, autosomal recessive neurodegenerative disorder characterized by diabetes insipidus, insulin-dependent diabetes mellitus, optic atrophy, and deafness resulting from loss-of-function genetic variants in the WFS1 gene. Individuals with WS1 manifest a spectrum of neuropsychiatric disorders. Here, we report a pediatric […]
Optic Nerve T2 Signal Intensity and Caliber Reflect Clinical Severity in Genetic Optic Atrophy
J Neuroophthalmol. 2024 Jun 17. doi: 10.1097/WNO.0000000000002191. Online ahead of print. ABSTRACT BACKGROUND: Genetic optic atrophies comprise phenotypically heterogenous disorders of mitochondrial function. We aimed to correlate quantitative neuroimaging findings of the optic nerves in these disorders with clinical measures. METHODS: From a retrospective database of 111 patients with bilateral optic atrophy referred for genetic […]
An adolescent male with persistent urinary symptoms
Pediatr Nephrol. 2024 Jun 6. doi: 10.1007/s00467-024-06424-3. Online ahead of print. ABSTRACT An 11-year-old male child who presented with increased frequency of urination, thirst and feeling of incomplete void was initially diagnosed with diabetes mellitus (DM) based on elevated blood sugar. Polyuria and polydipsia were confirmed even after normalisation of blood sugar. A standardised water […]
Multimodal imaging in autosomal dominant Wolfram syndrome and long-term follow-up of laminations of the outer plexiform layer
Eye (Lond). 2024 May 14. doi: 10.1038/s41433-024-03114-0. Online ahead of print. NO ABSTRACT PMID:38745083 | DOI:10.1038/s41433-024-03114-0
Novel WFS1 Variants in Two Moroccan Families with Wolfram Syndrome
Genet Test Mol Biomarkers. 2024 May 9. doi: 10.1089/gtmb.2023.0550. Online ahead of print. ABSTRACT Background: Wolfram syndrome (WFS) is an autosomal recessive disorder that often leads to diabetes, optic atrophy, and sensorineural hearing loss. The aim of this study was to determine the clinical characteristics and the genetic cause of the first two Moroccan families […]
The Wolfram-like variant WFS1(E864K) destabilizes MAM and compromises autophagy and mitophagy in human and mice
Autophagy. 2024 Apr 23:1-12. doi: 10.1080/15548627.2024.2341588. Online ahead of print. ABSTRACT Dominant variants in WFS1 (wolframin ER transmembrane glycoprotein), the gene coding for a mitochondria-associated endoplasmic reticulum (ER) membrane (MAM) resident protein, have been associated with Wolfram-like syndrome (WLS). In vitro and in vivo, WFS1 loss results in reduced ER to mitochondria calcium (Ca2+) transfer, […]
Astrocyte-mediated regulation of BLAWFS1 neurons alleviates risk-assessment deficits in DISC1-N mice
Neuron. 2024 Apr 16:S0896-6273(24)00235-6. doi: 10.1016/j.neuron.2024.03.028. Online ahead of print. ABSTRACT Assessing and responding to threats is vital in everyday life. Unfortunately, many mental illnesses involve impaired risk assessment, affecting patients, families, and society. The brain processes behind these behaviors are not well understood. We developed a transgenic mouse model (disrupted-in-schizophrenia 1 [DISC1]-N) with a […]