Boosting ER-mitochondria calcium transfer to treat Wolfram syndrome
Cell Calcium. 2022 Jun;104:102572. doi: 10.1016/j.ceca.2022.102572. Epub 2022 Mar 24. ABSTRACT Wolfram syndrome is a rare genetic disorder characterized by endocrine dysfunction and progressive neurodegeneration. By targeting intracellular calcium dysregulations, a sigma-1 receptor agonist rescued neurological deficits in preclinical models of Wolfram syndrome. PMID:35366518 | DOI:10.1016/j.ceca.2022.102572
Wolfram Syndrome 1: From Genetics to Therapy
Int J Environ Res Public Health. 2022 Mar 9;19(6):3225. doi: 10.3390/ijerph19063225. ABSTRACT Wolfram syndrome 1 (WS1) is a rare neurodegenerative disease transmitted in an autosomal recessive mode. It is characterized by diabetes insipidus (DI), diabetes mellitus (DM), optic atrophy (OA), and sensorineural hearing loss (D) (DIDMOAD). The clinical picture may be complicated by other symptoms, […]
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 […]
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 […]
Diagnosis of Parkinson syndrome and Lewy-body disease using 123I-ioflupane images and a model with image features based on machine learning
Ann Nucl Med. 2022 Aug;36(8):765-776. doi: 10.1007/s12149-022-01759-z. Epub 2022 Jul 7. ABSTRACT OBJECTIVES: 123I-ioflupane has been clinically applied to dopamine transporter imaging and visual interpretation assisted by region-of-interest (ROI)-based parameters. We aimed to build a multivariable model incorporating machine learning (ML) that could accurately differentiate abnormal profiles on 123I-ioflupane images and diagnose Parkinson syndrome or […]
Wolfram syndrome with a rare genetic mutation – Case report
Indian J Ophthalmol. 2022 Jul;70(7):2755-2757. doi: 10.4103/ijo.IJO_1301_21. NO ABSTRACT PMID:35791237 | PMC:PMC9426068 | DOI:10.4103/ijo.IJO_1301_21
Diabetes Out-of-the-Box: Diabetes Mellitus and Impairment in Hearing and Vision
Curr Diab Rep. 2022 Sep;22(9):423-432. doi: 10.1007/s11892-022-01483-y. Epub 2022 Jul 5. ABSTRACT PURPOSEOF REVIEW: This review aims to provide an update on the etiologies of diabetes that are due to genetic disorders and that co-occur with impaired hearing or vision and to compare them. The potential mechanisms, including novel treatments, will be detailed. RECENT FINDINGS: […]
Dysregulated Ca2+ Homeostasis as a Central Theme in Neurodegeneration: Lessons from Alzheimer’s Disease and Wolfram Syndrome
Cells. 2022 Jun 18;11(12):1963. doi: 10.3390/cells11121963. ABSTRACT Calcium ions (Ca2+) operate as important messengers in the cell, indispensable for signaling the underlying numerous cellular processes in all of the cell types in the human body. In neurons, Ca2+ signaling is crucial for regulating synaptic transmission and for the processes of learning and memory formation. Hence, […]