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 […]

Cardiac Wolframinopathies: A Case Report of Myocarditis and a Literature Review of Cardiac Involvement in Wolfram Syndrome 1

J Clin Med. 2024 Mar 21;13(6):1803. doi: 10.3390/jcm13061803. ABSTRACT Purpose: Myocarditis is frequently a sporadic disease, but may also occur in the context of genetic disorders which may increase susceptibility to cardiac inflammation. Cardiac involvement in Wolfram syndrome type 1 (WS1) has been scarcely characterized. To our knowledge, no cases of virus-negative myocarditis have been […]

A Wolfram-like syndrome family: Case report

Eur J Ophthalmol. 2024 Mar 12:11206721241237552. doi: 10.1177/11206721241237552. Online ahead of print. ABSTRACT BACKGROUND: Wolfram-like syndrome (WFLS) is an autosomal dominant inherited disease characterized by a single heterozygous pathogenic variant in the WFS1 gene. Its clinical presentation is similar to autosomal recessive Wolfram syndrome. CASE PRESENTATION: We reported a case of a 10-year-old boy and […]