Category: Wolfram syndrome

Comprehensive Genetic Analysis Unraveled the Missing Heritability in a Chinese Cohort With Wolfram Syndrome 1: Clinical and Genetic Findings

Invest Ophthalmol Vis Sci. 2022 Sep 1;63(10):9. doi: 10.1167/iovs.63.10.9. ABSTRACT PURPOSE: To identify the missing heritability of patients with Wolfram syndrome 1 (WFS1) in a Chinese cohort and to report their clinical and genetic features. METHODS: We recruited 24 unrelated patients with suspected WFS1 who carried at least one variant in WFS1. All patients underwent […]

A novel WFS1 variant associated with severe diabetic retinopathy in Wolfram syndrome type 1

Ophthalmic Genet. 2022 Sep 12:1-9. doi: 10.1080/13816810.2022.2113546. Online ahead of print. ABSTRACT BACKGROUND: Wolfram syndrome type 1 is a rare neurodegenerative disorder including diabetes insipidus, diabetes mellitus, optic atrophy, and deafness, with variable additional findings. The phenotypic spectrum is very heterogeneous, with non-autoimmune juvenile-onset diabetes and optic atrophy as minimal criteria for the diagnosis. Biallelic […]

Oxidative and endoplasmic reticulum stress develop adverse metabolic effects due to the high-fat high-fructose diet consumption from birth to young adulthood

Life Sci. 2022 Nov 15;309:120924. doi: 10.1016/j.lfs.2022.120924. Epub 2022 Sep 5. ABSTRACT AIMS: The early postnatal dietary intake has been considered a crucial factor affecting the offspring later life metabolic status. Consistently, this study investigated the oxidative and endoplasmic reticulum (ER) stress interventions in the induction of adverse metabolic effects due to the high-fat high-fructose […]

New International Guidelines and Consensus on the Use of Lung Ultrasound

J Ultrasound Med. 2023 Feb;42(2):309-344. doi: 10.1002/jum.16088. Epub 2022 Aug 22. ABSTRACT Following the innovations and new discoveries of the last 10 years in the field of lung ultrasound (LUS), a multidisciplinary panel of international LUS experts from six countries and from different fields (clinical and technical) reviewed and updated the original international consensus for […]

NCS1 overexpression restored mitochondrial activity and behavioral alterations in a zebrafish model of Wolfram syndrome

Mol Ther Methods Clin Dev. 2022 Oct 7;27:295-308. doi: 10.1016/j.omtm.2022.10.003. eCollection 2022 Dec 8. ABSTRACT Wolfram syndrome (WS) is a rare neurodegenerative disease resulting in deafness, optic atrophy, diabetes, and neurological disorders. Currently, no treatment is available for patients. The mutated gene, WFS1, encodes an endoplasmic reticulum (ER) protein, Wolframin. We previously reported that Wolframin […]

Two cases of Wolfram syndrome

Zhonghua Yan Ke Za Zhi. 2022 Oct 11;58(10):799-802. doi: 10.3760/cma.j.cn112142-20220608-00287. ABSTRACT Two adolescents with T1DM participated in the Shanghai Children and Adolescent DM Eye study (SCADE) 2017-2018. The previous T1DM history of the 2 children were 12 years and 4 years respectively. The history of optic atrophy were 8 years and 4 years respectively. The […]

Predictions of the Poses and Affinity of a Ligand over the Entire Surface of a NEET Protein: The Case of Human MitoNEET

J Chem Inf Model. 2023 Jan 23;63(2):643-654. doi: 10.1021/acs.jcim.2c01280. Epub 2023 Jan 9. ABSTRACT Human NEET proteins contain two [2Fe-2S] iron-sulfur clusters, bound to three Cys residues and one His residue. They exist in two redox states. Recently, these proteins have revealed themselves as attractive drug targets for mitochondrial dysfunction-related diseases, such as type 2 […]

The Role of ER Stress in Diabetes: Exploring Pathological Mechanisms Using Wolfram Syndrome

Int J Mol Sci. 2022 Dec 23;24(1):230. doi: 10.3390/ijms24010230. ABSTRACT The endoplasmic reticulum (ER) is a cytosolic organelle that plays an essential role in the folding and processing of new secretory proteins, including insulin. The pathogenesis of diabetes, a group of metabolic disorders caused by dysfunctional insulin secretion (Type 1 diabetes, T1DM) or insulin sensitivity […]

A 75-Year-Old Woman with a 5-Year History of Controlled Type 2 Diabetes Mellitus Presenting with Polydipsia and Polyuria and a Diagnosis of Central Diabetes Insipidus

Am J Case Rep. 2022 Dec 31;23:e938482. doi: 10.12659/AJCR.938482. ABSTRACT BACKGROUND Central diabetes insipidus (CDI) is a rare disorder characterized by large volumes of dilute urine because of a lack of antidiuretic hormone. Co-existing CDI and diabetes mellitus without inherited disorders such as Wolfram syndrome are rare. It is both important and challenging to diagnose […]