Publication: Orphanet Journal of Rare Diseases | Publication Date: February 22, 2020
Authors: Raul Alfaro, Tasha Doty, Anagha Narayanan, Heather Lugar, Tamara Hershey & M. Yanina Pepino
Background: Wolfram syndrome is a rare genetic disease characterized by insulin-dependent diabetes, optic nerve atrophy, sensorineural hearing loss and neurodegeneration. Read more
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
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
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
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
Publication: Nature.com | Publication Date: October 31, 2019
Authors: Kadri Seppa, Maarja Toots, Riin Reimets, Toomas Jagomäe, Tuuliki Koppel, Maia Pallase, Stine Hasselholt, Maiken Krogsbæk Mikkelsen, Jens Randel Nyengaard, Eero Vasar, Anton Terasmaa & Mario Plaas
Wolfram syndrome (WS) is a rare neurodegenerative disorder that is mainly characterized by diabetes mellitus, optic nerve atrophy, deafness, and progressive brainstem degeneration. Treatment with GLP-1 receptor agonists has shown a promising anti-diabetic effect in WS treatment in both animal models and in human patients. Since previous research has tended to focus on investigation of the WS first symptom, diabetes mellitus, the aim of the present study was to examine liraglutide effect on WS-associated neurodegeneration. We took 9-month-old Wfs1 knock-out (KO) animals that already had developed glucose intolerance and treated them with liraglutide for 6 months. Our research results indicate that 6-month liraglutide treatment reduced neuroinflammation and ameliorated endoplasmic reticulum (ER) stress in the inferior olive of the aged WS rat model. Liraglutide treatment also protected retinal ganglion cells from cell death and optic nerve axons from degeneration. According to this, the results of the present study provide novel insight that GLP-1 receptor agonist liraglutide has a neuroprotective effect in the WS rat model.
Publication: ScienceDirect | Publication Date: October 2019
Authors: Damien Abreu, Fumihiko Urano
Wolfram syndrome is a rare genetic spectrum disorder characterized by insulin-dependent diabetes mellitus, optic nerve atrophy, and progressive neurodegeneration, and ranges from mild to severe clinical symptoms. There is currently no treatment to delay, halt, or reverse the progression of Wolfram syndrome, raising the urgency for innovative therapeutics for this disease. Here, we summarize our vision for developing novel treatment strategies and achieving a cure for Wolfram-syndrome-spectrum disorder.
Publication: Hindawi.com | Publication Date: 2018
Authors: N. B. Toppings, J. M. McMillan, P. Y. B. Au, O. Suchowersky and L. E. Donovan
Background. Classical Wolfram syndrome (WS) is a rare autosomal recessive disorder caused by mutations in WFS1, a gene implicated in endoplasmic reticulum (ER) and mitochondrial function. WS is characterized by insulin-requiring diabetes mellitus and optic atrophy. A constellation of other features contributes to the acronym DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness). This review seeks to raise awareness of this rare form of diabetes so that individuals with WS are identified and provided with appropriate care. Case. We describe a woman without risk factors for gestational or type 2 diabetes who presented with gestational diabetes (GDM) at the age of 39 years during her first and only pregnancy. Although she had optic atrophy since the age of 10 years, WS was not considered as her diagnosis until she presented with GDM. Biallelic mutations in WFS1 were identified, supporting a diagnosis of classical WS. Conclusions. The distinct natural history, complications, and differences in management reinforce the importance of distinguishing WS from other forms of diabetes. Recent advances in the genetics and pathophysiology of WS have led to promising new therapeutic considerations that may preserve β-cell function and slow progressive neurological decline. Insight into the pathophysiology of WS may also inform strategies for β-cell preservation for individuals with type 1 and 2 diabetes.
The drive was mostly quiet except for my pounding heart beat. I looked over at Raquel in the passenger seat as she twiddled her thumbs. I felt like I could break at any moment, the nerves were getting to me. I wondered how Raquel felt? Was she ready? I sure wasn’t.
Today was the first day of school. I already sent my eldest daughters, Merry and Lauren to high school. Lauren is a Freshman and Merry is a Junior. They had each other, so I knew they’d be alright, and Merry was already the well-known, popular, star-studded upperclassman. Raquel had no one except for the student aid she was assigned for the first week of classes.
My anxiety was at an all time high. When we pulled up to the school and I dropped her off, I noticed the teacher that was waiting to accompany Raquel to her locker. I watched her as she walked away, fearing a sudden misstep or trip over something she couldn’t see, even a small pebble. I tried to curb my nerves, but my heart dropped with every step.
I wanted so fiercely for Raquel to be accepted. After all, she is my baby cub, and I couldn’t bare the thought of her being eaten alive. Sending you daughter who can barely see five feet in front of her into the den of hundreds of crazed pre-teens is like eating cold soup; It leaves a bit of a sour taste in your mouth.
The air was cold around me. It was probably just my body reacting to Raquel’s absence. I wanted to hold her hand as she walked through the halls. I wanted to hug her and make sure she was okay. I wanted to be there to scold any child that looked at her like she was different. I knew I had to relinquish my leash. I couldn’t be there to guide her through life in some aspects, and I knew she had to make it on her own. She is growing up, and I think that’s what I fear the most.
Hours later when Raquel got back in the car, I asked her, “How was your day sweetie?” My heart was racing with the fear of the unknown. I hoped that nothing happened to her. I was trying to hide my worry, but I couldn’t bare the thought of her Wolfram syndrome deterring her happiness. It’s all a mother could want for her child. When Raquel looked at me, I didn’t see the same blank nervousness, but the glint of a smile. “I made a new friend,” she said. With that, I finally was at ease.
The Zwan family celebrating Christmas with their festive holiday sweaters.
A Little Worried?
I feel lucky to have a family that loves me as much as they do but like everything in life there are some consequences. Before being diagnosed with diabetes and then Wolfram Syndrome, I could visit family members and make it an enjoyable event. I still enjoy seeing family but my presence has changed from a pleasant visit to a worrisome task.
In previous years I would pay visits to parts of the family and there would be lots of food, fun, and laughter. In the past few years I have felt guilty for creating so much fear and worry that I think twice before packing a bag to stay the weekend at someone’s house. The fear and worry that I speak of is due to my health and its complications creating this mindset of “I hope nothing goes wrong while he’s here.” My visiting experiences are filled with “can Adam eat this?, has Adam ate enough?, is Adam in pain?, does Adam need to go home early?, Lord I hope nothing happens while Adam is here.” I have had one or two issues with glucose levels during the evening that no longer occur but each time I stay somewhere my family is adamant when using a baby monitor and or sleeping on the sofa next to me just to make sure nothing occurs while sleeping.
I am very thankful to have a family love me as much as I do but pleasant experiences have certainly changed due to Wolfram Syndrome. When I get the feeling that I am a fly in the ointment and not a pleasant visitor I just grit my teeth and say that it could be worse so accept it and count my blessings. I try to stay optimistic by hoping and praying that something will change for the better in the near future.
I have always had great intuition (good or bad), ask my friends and family! The Snow Foundation has hired a new President and CEO, Dr. Saad Naseer, who is driven and ready to make our dreams become reality. The foundation is finally receiving the full time attention and direction it deserves, which means Wolfram syndrome patients are going to get the help and their prayers answered. I am excited to spread the word and I mean really spread the word and I am more excited that Snow Foundation has the leadership to make it happen. My prayers have been answered and I am grateful. This year is going to be revolutionary, great changes are coming.
Publication: www.ncbi.nlm.nih.gov | Publication Date: January 7, 2016
Authors: Fumihiko Urano
Wolfram syndrome is a rare genetic disorder characterized by juvenile-onset diabetes mellitus, diabetes insipidus, optic nerve atrophy, hearing loss, and neurodegeneration. Although there are currently no effective treatments that can delay or reverse the progression of Wolfram syndrome, the use of careful clinical monitoring and supportive care can help relieve the suffering of patients and improve their quality of life. The prognosis of this syndrome is currently poor, and many patients die prematurely with severe neurological disabilities, raising the urgency for developing novel treatments for Wolfram syndrome. In this article, we describe natural history and etiology, provide recommendations for diagnosis and clinical management, and introduce new treatments for Wolfram syndrome.
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