Publication: MDPI.org | Publication Date: August 4, 2020
Authors: Arleta Waszczykowska, Agnieszka Zmyslowska, Marcin Braun, Marilin Ivask, Sulev Koks, Piotr Jurowski, and Wojciech Mylnarski
Significance
To investigate retinal thickness and wolframin expression disorders in Wolfram syndrome 1 gene knockout (Wfs1KO) mice compared to their wild-type (WT) littermates.
Publication: American Diabetes Association | Publication Date: June 2020
Authors: Mary Katherine Ray, Tamara Hershey, Ling Chen, Neil H. White, and Bess A. Marshall
Significance
The purpose of this study was to examine progression of DM, measured by beta-cell function, in WFS patients over time. N=44 (25F/19M) participants with genetically confirmed WFS attended the Washington University Wolfram Research Clinic from 2010-2019.
Wolfram syndrome (WS) is an autosomal recessive neurodegenerative disorder characterized by Diabetes Insipidus, Diabetes Mellitus (non-autoimmune), Optic Atrophy, and Deafness. We report the case of a patient sent to the physical and rehabilitation department to manage urinary disorders and for whom the diagnosis of WS was retained.
http://thesnowfoundation.org/wp-content/uploads/2019/06/snow-foundation_logo.svg00Bhushan Sreekrishnavilashttp://thesnowfoundation.org/wp-content/uploads/2019/06/snow-foundation_logo.svgBhushan Sreekrishnavilas2020-11-27 12:03:222020-11-27 12:04:28Urinary disorders revealing a wolfram syndrome: A case report
Wolfram Syndrome is a rare, autosomal recessive genetic disorder with clinical symptoms appearing in early childhood. Here, we report a generation of iPSCs from fibroblasts of a patient affected by this disease. Read more
http://thesnowfoundation.org/wp-content/uploads/2019/06/snow-foundation_logo.svg00The Snow Foundationhttp://thesnowfoundation.org/wp-content/uploads/2019/06/snow-foundation_logo.svgThe Snow Foundation2020-07-20 06:56:592024-02-16 18:01:29Characterization of an induced pluripotent stem cell line (IMBPASi001-A) derived from fibroblasts of a patient affected by Wolfram Syndrome
Publication: Nature.com | Publication Date: May 4, 2020
Authors: Jana Mahadevan, Shuntaro Morikawa, Takuya Yagi, Damien Abreu, Simin Lu, Kohsuke Kanekura, Cris M. Brown & Fumihiko Urano
Abstract
Endoplasmic reticulum (ER) stress-mediated cell death is an emerging target for human chronic disorders, including neurodegeneration and diabetes. However, there is currently no treatment for preventing ER stress-mediated cell death. Here, we show that mesencephalic astrocyte-derived neurotrophic factor (MANF), a neurotrophic factor secreted from ER stressed cells, prevents ER stress-mediated β cell death and enhances β cell proliferation in cell and mouse models of Wolfram syndrome, a prototype of ER disorders. Read more
Publication: Nature.com | Publication Date: March 16, 2020
Authors: Chiara La Morgia, Alessandra Maresca, Giulia Amore, Laura Ludovica Gramegna, Michele Carbonelli, Emanuela Scimonelli, Alberto Danese, Simone Patergnani, Leonardo Caporali, Francesca Tagliavini, Valentina Del Dotto, Mariantonietta Capristo, Federico Sadun, Piero Barboni, Giacomo Savini, Stefania Evangelisti, Claudio Bianchini, Maria Lucia Valentino, Rocco Liguori, Caterina Tonon, Carlotta Giorgi, Paolo Pinton, Raffaele Lodi & Valerio Carelli
Abstract
Wolfram syndrome (WS) is a recessive multisystem disorder defined by the association of diabetes mellitus and optic atrophy, reminiscent of mitochondrial diseases. The role played by mitochondria remains elusive, with contradictory results on the occurrence of mitochondrial dysfunction. Read more
Background: Wolfram syndrome is a rare genetic disease characterized by insulin-dependent diabetes, optic nerve atrophy, sensorineural hearing loss and neurodegeneration. Read more
http://thesnowfoundation.org/wp-content/uploads/2019/06/snow-foundation_logo.svg00The Snow Foundationhttp://thesnowfoundation.org/wp-content/uploads/2019/06/snow-foundation_logo.svgThe Snow Foundation2020-02-22 07:21:342024-02-16 18:14:13Taste and smell function in Wolfram syndrome
Publication: American Diabetes Association | Publication Date: January 2020
Authors: Meihang Li, Sihua Wang, Kuanfeng Xu, Yang Chen, Qi Fu, Yong Gu, Yun Shi, Mei Zhang, Min Sun, Heng Chen, Xiuqun Han, Yangxi Li, Zhoukai Tang, Lejing Cai, Zhiqiang Li, Yongyong Shi, Tao Yang and Constantin Polychronakos
Abstract
It is estimated that ∼1% of European ancestry patients clinically diagnosed with type 1 diabetes (T1D) actually have monogenic forms of the disease. Because of the much lower incidence of true T1D in East Asians, we hypothesized that the percentage would be much higher. Read more
http://thesnowfoundation.org/wp-content/uploads/2019/06/snow-foundation_logo.svg00The Snow Foundationhttp://thesnowfoundation.org/wp-content/uploads/2019/06/snow-foundation_logo.svgThe Snow Foundation2020-01-28 07:25:472024-02-16 18:17:07High Prevalence of a Monogenic Cause in Han Chinese Diagnosed With Type 1 Diabetes, Partly Driven by Nonsyndromic Recessive WFS1 Mutations
Publication: BMC Medical Genetics | Publication Date: January 14, 2020
Authors: Maryam Sobhani, Mohammad Amin Tabatabaiefar, Soudeh Ghafouri-Fard, Asadollah Rajab, Asal Hojjat, Abdol-Mohammad Kajbafzadeh & Mohammad Reza Noori-Daloii
Abstract
Conclusions: The mutational and phenotypic spectrum of WS is broadened by our report of novel WFS1 mutation. Our results reveal the value of molecular analysis of WFS1 in the improvement of clinical diagnostics for WS. Read more
http://thesnowfoundation.org/wp-content/uploads/2019/06/snow-foundation_logo.svg00The Snow Foundationhttp://thesnowfoundation.org/wp-content/uploads/2019/06/snow-foundation_logo.svgThe Snow Foundation2020-01-14 07:29:072024-02-16 18:20:47Clinical and genetic analysis of two wolfram syndrome families with high occurrence of wolfram syndrome and diabetes type II: a case report
The Laboratory of Molecular & Cellular Signaling (LMCS; https://gbiomed.kuleuven.be/english/research/50000618/50753344), co-directed by Prof. Jan B. Parys & Prof. Geert Bultynck, is part of the Department of Cellular and Molecular Medicine at KU Leuven. The research team studies intracellular Ca2+ signals and Ca2+-controlled processes such as cell death and cellular bio-energetics in human cells. Furthermore, the team aspires to elucidate how these Ca2+ signals contribute to human health and to disease when such signals are disturbed. Hence, by targeting the function of intracellular Ca2+-transport system, we hope to develop novel strategies to tackle such disease states or reduce disease burden. The lab has focused on diseases associated with suppressed Ca2+ signaling, such as cancer, as well as with excessive Ca2+ signaling, such as acute pancreatitis. For its research activities, the lab collaborates with several teams at KU Leuven, in Belgium and around the globe. To foster research collaboration among its partners and to serve as a Ca2+-signaling hub for other researchers, the lab has established a research community “Ca2+ signaling in health, disease & therapy” supported by the Research Foundation – Flanders (CaSign; www.casign.org).
Very recently and thanks to a recently established research alliance with Dr. Kaasik (Tartu University, Estonia) supported by CELSA (Central Europe Leuven Strategic Alliance), LMCS has included Wolfram Syndrome within its strategic ambitions for future research programs. The team aims to develop novel strategies to tackle Wolfram syndrome by targeting the Ca2+-signaling machinery and restoring Ca2+ homeostasis in cells. In cell systems that serve as a model for Wolfram Syndrome, the team will explore the role of anti-apoptotic Bcl-2 proteins in Ca2+-signaling dysregulation, since these proteins are key modulators of intracellular Ca2+-release channels perturbed in Wolfram Syndrome Type 1 and Type 2. Next, the team will exploit recently obtained insights in the interplay between Bcl-2-protein function and Ca2+ signaling to develop novel strategies to fight Ca2+-driven disease outcomes in Wolfram syndrome. In the (long-term) future with the help of several local partners at KU Leuven & its international network of collaborators (to whom we are very grateful), LMCS strives to translate their findings towards patient-derived cell models, such as fibroblasts and neuronal, eye, brain cell types differentiated from stem cells and to develop strategies to apply such tools in the eye or the brain. The team hopes to develop these research endeavors with the critical support from national funding agencies but also from foundations such as Eye Hope and SNOW Foundation.
Who is who in Wolfram research @ LMCS, KU Leuven
Geert Bultynck is a Professor & Principle Investigator at the Laboratory of Molecular & Cellular Signaling, Department of Cellular & Molecular Medicine, KU Leuven. His research focuses on exploring & exploiting intra- and intercellular Ca2+ signaling in health, disease & therapy. He teaches Cell Physiology and Human Physiology. He will direct & supervise the research on Wolfram syndrome. When Geert is not doing research/teaching, you can find him on the badminton pitch, the stands of his favorite soccer team, at the hobbies of his 2 children or travelling with his wife & children.
Tim Vervliet is a postdoctoral researcher at the Laboratory of Molecular & Cellular Signaling. Tim is supported by a fellowship from the Research Foundation – Flanders (FWO). His research focuses on the role of ryanodine receptor Ca2+ channels in cell function & disease, including neurodegenerative diseases. He teaches a work session on Ion Channels. He will perform research on Wolfram syndrome, but also supervise and train new students arriving in the lab. When Tim is not doing research, he is renovating his house, taking care of the vegetable garden or going out with his friends.
Rita La Rovere is a part-time technical expert at the Laboratory of Molecular & Cellular Signaling and helps out several PhD students & postdocs with their projects. Rita will provide technical support to the research on Wolfram syndrome. When Rita is not in the lab, you can find her most of the time at home, focusing on her daughters’ activities and the family needs. She also likes Italian cooking and spends time outside with her family.
Jens Loncke currently is a last year student in the Master of Biochemistry & Biotechnology. Jens will join the Laboratory of Molecular & Cellular Signaling in September 2019 for a 4-years PhD project aiming to study Ca2+ signaling and Bcl-2-protein function in Wolfram syndrome. We are grateful and excited that the Eye Hope Foundation recently decided to support Jens’ PhD project (1 year PhD salary). Further support for Jens and his project is sought from external sources, including the SNOW Foundation. When Jens is not studying/doing research, he enjoys listening to music at concerts or playing music himself. As an outdoors person, he enjoys hiking and practicing sports in open air.
Marth Briers currently is 3rd year Bachelor student in the Master of Pharmaceutical Sciences. Marth will join the Laboratory of Molecular & Cellular Signaling during the summer of 2019. To support her stay in the lab, she applied for a student internship grant from the Biochemical Society – UK. Marth will work on the biochemical link between CISD2 and Bcl-2 in Ca2+-signaling control. When Mart is not studying, you can find her on the tennis court, on the playground as a scouts guide or enjoying a drink with friends.
http://thesnowfoundation.org/wp-content/uploads/2019/06/snow-foundation_logo.svg00The Snow Foundationhttp://thesnowfoundation.org/wp-content/uploads/2019/06/snow-foundation_logo.svgThe Snow Foundation2019-09-17 08:30:242020-08-24 07:57:03The Laboratory of Molecular & Cellular Signaling and its mission in Wolfram Syndrome research
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