Category: Wolfram syndrome

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 […]

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 […]

Cisd2 deficiency impairs neutrophil function by regulating calcium homeostasis via Calnexin and SERCA

BMB Rep. 2024 Apr 17:6179. Online ahead of print. ABSTRACT In the context of aging, the susceptibility to infectious diseases increases, leading to heightened morbidity and mortality. This phenomenon, termed immunosenescence, is characterized by dysregulation in the aging immune system, including abnormal alterations in lymphocyte composition, elevated basal inflammation, and the accumulation of senescent T […]