Morphological, behavioral and cellular analyses revealed different phenotypes in Wolfram syndrome wfs1a and wfs1b zebrafish mutant lines
Hum Mol Genet. 2022 Aug 23;31(16):2711-2727. doi: 10.1093/hmg/ddac065. ABSTRACT Wolfram syndrome (WS) is a rare genetic disease characterized by diabetes, optic atrophy and deafness. Patients die at 35 years of age, mainly from respiratory failure or dysphagia. Unfortunately, there is no treatment to block the progression of symptoms and there is an urgent need for […]
Genetic protocol in primary care for rare diseases: Wolfram syndrome as a prototype
Aten Primaria. 2022 May;54(5):102285. doi: 10.1016/j.aprim.2022.102285. Epub 2022 Mar 16. ABSTRACT Rare diseases, despite their individual low frequency, affect 7% of the population all combined. Consequently, every primary care practitioner (PCP) will have several of these patients under his care. 80% of rare diseases are genetically determined, which makes genetic counseling fundamental in these cases. […]
Wolframin deficiency is accompanied with metabolic inflexibility in rat striated muscles
Biochem Biophys Rep. 2022 Mar 12;30:101250. doi: 10.1016/j.bbrep.2022.101250. eCollection 2022 Jul. ABSTRACT The protein wolframin is localized in the membrane of the endoplasmic reticulum (ER), influencing Ca2+ metabolism and ER interaction with mitochondria, but the exact role of the protein remains unclear. Mutations in Wfs1 gene cause autosomal recessive disorder Wolfram syndrome (WS). The first […]
Plasma Neurofilament Light Chain Levels Are Elevated in Children and Young Adults With Wolfram Syndrome
Front Neurosci. 2022 Apr 12;16:795317. doi: 10.3389/fnins.2022.795317. eCollection 2022. ABSTRACT Wolfram syndrome is a rare disease caused by pathogenic variants in the WFS1 gene with progressive neurodegeneration. As an easily accessible biomarker of progression of neurodegeneration has not yet been found, accurate tracking of the neurodegenerative process over time requires assessment by costly and time-consuming […]
Neuro-ophthalmological manifestations of Wolfram syndrome: Case series and review of the literature
J Neurol Sci. 2022 Jun 15;437:120267. doi: 10.1016/j.jns.2022.120267. Epub 2022 Apr 20. ABSTRACT Wolfram Syndrome (WS) is a rare progressive hereditary neurodegenerative disease with hallmark features of diabetes mellitus, optic atrophy, and hearing loss. Its other clinical manifestations may include diabetes insipidus, urological, neurological, and psychiatric abnormalities. We review systemic and ocular manifestations of WS […]
Early Diagnosis of Wolfram Syndrome by Ophthalmologic Screening in a Patient with Type 1B Diabetes Mellitus: A Case Report
J Clin Res Pediatr Endocrinol. 2022 Aug 19. doi: 10.4274/jcrpe.galenos.2022.2022-4-11. Online ahead of print. ABSTRACT Wolfram syndrome (WS) is a monogenic diabetes caused by variants of the WFS1 gene. It is characterized by diabetes mellitus (DM) and optic atrophy (OA). Individuals with WS initially present with autoantibody-negative type 1 DM (T1BDM). The diagnosis is often […]
Cardiovascular risk factors, exercise capacity and health literacy in patients with chronic ischaemic heart disease and type 2 diabetes mellitus in Germany: Baseline characteristics of the Lifestyle Intervention in Chronic Ischaemic Heart Disease and Type 2 Diabetes study
Diab Vasc Dis Res. 2022 Jul-Aug;19(4):14791641221113781. doi: 10.1177/14791641221113781. ABSTRACT BACKGROUND: Lifestyle interventions are a cornerstone in the treatment of chronic ischaemic heart disease (CIHD) and type 2 diabetes mellitus (T2DM). This study aimed at identifying differences in clinical characteristics between categories of the common lifestyle intervention targets BMI, exercise capacity (peak V̇O2) and health literacy […]
Petrified heart in a patient with Wolfram Syndrome
J Public Health Res. 2022 Jul 9;11(3):22799036221107063. doi: 10.1177/22799036221107063. eCollection 2022 Jul. ABSTRACT Myocardial calcification is a rare complication of severe systemic sepsis. The pathophysiological mechanisms underlying calcium accumulation in cardiomyocytes in generalized sepsis are complex and still under investigation. It is a serious and life-threatening condition, usually diagnosed by autopsy, rarely with imaging techniques. […]
Longitudinal Changes in Vision and Retinal Morphology in Wolfram Syndrome
Am J Ophthalmol. 2022 Nov;243:10-18. doi: 10.1016/j.ajo.2022.07.003. Epub 2022 Jul 16. ABSTRACT PURPOSE: To report long-term ophthalmic findings in Wolfram syndrome, including rates of visual decline, macular thinning, retinal nerve fiber layer (RNFL) thinning, and outer plexiform layer (OPL) lamination. DESIGN: Single-center, cohort study. METHODS: A total of 38 participants were studied, who underwent a […]
Genetic and prenatal diagnosis of a Chinese pedigree with autosomal recessive Wolfram syndrome 1 due to compound heterozygous variants of WFS1 gene
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Jul 10;39(7):698-702. doi: 10.3760/cma.j.cn511374-20210603-00469. ABSTRACT OBJECTIVE: To explore the genetic pathogenicity for a Chinese pedigree affected with severe syndromic deafness. METHODS: High-throughput sequencing was carried out to analyze the 415 genes associated with hereditary deafness in the proband who has hearing loss in association with optic […]