Longitudinal progression of diabetes mellitus in Wolfram syndrome: the Washington University Wolfram Research Clinic experience

2014 ◽

Vol 5 (1) ◽

pp. 89-97

Author(s):

Gema Esteban ◽

Mónica Ruano ◽

Isabel Motero

Keyword(s):

Quality Of Life ◽

Diabetes Mellitus ◽

Genetic Basis ◽

Clinical Symptoms ◽

Daily Life ◽

Wolfram Syndrome ◽

Clinical Aspects ◽

The Family ◽

Low Prevalence

Wolfram Syndrome (WS) is a rare disease (RD) with an estimated prevalence of 1/770,000 inhabitants. It is considered a multisystemic, chronic and progressive disease.WS diagnosis implies devastating consequences at physical, educational and emotional levels. WS is also known by the acronym DIDMOAD, derived from the first letters of the main clinical symptoms: Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness. Rare diseases are characterized by their low prevalence and the lack of knowledge on the pathophysiology and treatment of them. Interestingly, around 80% of RD have a genetic basis, and this fact causes doubts and uncertainties in the couples, about the idea of having another child. The existence of a RD in a family, alters significantly the relationships and the quality of life within the family. The present work remarks the huge value of psychosocial aspects in order to pay an adequate attention to these patients, not only taking care of the clinical aspects. The main purpose of this study has been to ascertain the quality of life of Wolfram’s syndrome affected patients, and its impact in the daily life.

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Corrigendum to “Identification of unsuspected Wolfram syndrome cases through clinical assessment and WFS1 gene screening in type 1 diabetes mellitus patients” [GENE 566/1 (2015) 63–67]

Gene ◽

10.1016/j.gene.2015.05.041 ◽

2015 ◽

Vol 568 (2) ◽

pp. 227

Author(s):

Maria E. Blanco-Aguirre ◽

David Rivera-De la Parra ◽

Hugo Tapia-Garcia ◽

Johanna Gonzalez-Rodriguez ◽

Daniela Welschen ◽

...

Keyword(s):

Diabetes Mellitus ◽

Type 1 Diabetes ◽

Type 1 Diabetes Mellitus ◽

Clinical Assessment ◽

Wolfram Syndrome ◽

Gene Screening ◽

Wfs1 Gene

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Wolfram Syndrome: A Case Report and Review of Clinical Manifestations, Genetics Pathophysiology, and Potential Therapies

Case Reports in Endocrinology ◽

10.1155/2018/9412676 ◽

2018 ◽

Vol 2018 ◽

pp. 1-8 ◽

Cited By ~ 2

Author(s):

N. B. Toppings ◽

J. M. McMillan ◽

P. Y. B. Au ◽

O. Suchowersky ◽

L. E. Donovan

Keyword(s):

Diabetes Mellitus ◽

Optic Atrophy ◽

Cell Function ◽

Clinical Manifestations ◽

Autosomal Recessive Disorder ◽

Wolfram Syndrome ◽

Biallelic Mutations ◽

Therapeutic Considerations

Background.Classical Wolfram syndrome (WS) is a rare autosomal recessive disorder caused by mutations inWFS1,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 inWFS1were 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 preserveβ-cell function and slow progressive neurological decline. Insight into the pathophysiology of WS may also inform strategies forβ-cell preservation for individuals with type 1 and 2 diabetes.

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A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)

Nature Genetics ◽

10.1038/2441 ◽

1998 ◽

Vol 20 (2) ◽

pp. 143-148 ◽

Cited By ~ 453

Author(s):

Hiroshi Inoue ◽

Yukio Tanizawa ◽

Jon Wasson ◽

Philip Behn ◽

Kamini Kalidas ◽

...

Keyword(s):

Diabetes Mellitus ◽

Optic Atrophy ◽

Transmembrane Protein ◽

Wolfram Syndrome ◽

Gene Encoding ◽

Patients With Diabetes

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Identification of unsuspected Wolfram syndrome cases through clinical assessment and WFS1 gene screening in type 1 diabetes mellitus patients

Gene ◽

10.1016/j.gene.2015.04.040 ◽

2015 ◽

Vol 566 (1) ◽

pp. 63-67 ◽

Cited By ~ 8

Author(s):

Maria E. Blanco-Aguirre ◽

David Rivera-De la Parra ◽

Hugo Tapia-Garcia ◽

Johanna Gonzalez-Rodriguez ◽

Daniela Welskin ◽

...

Keyword(s):

Diabetes Mellitus ◽

Type 1 Diabetes ◽

Type 1 Diabetes Mellitus ◽

Clinical Assessment ◽

Wolfram Syndrome ◽

Gene Screening ◽

Wfs1 Gene

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Comments on - Wolfram syndrome: A rare mimic of Type 1 diabetes mellitus

CHRISMED Journal of Health and Research ◽

10.4103/2348-3334.196075 ◽

2017 ◽

Vol 4 (1) ◽

pp. 67

Author(s):

Anubhav Chauhan ◽

Lalit Gupta

Keyword(s):

Diabetes Mellitus ◽

Type 1 Diabetes ◽

Type 1 Diabetes Mellitus ◽

Wolfram Syndrome

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GLP-1 receptor agonist liraglutide has a neuroprotective effect on an aged rat model of Wolfram syndrome

Scientific Reports ◽

10.1038/s41598-019-52295-2 ◽

2019 ◽

Vol 9 (1) ◽

Cited By ~ 4

Author(s):

Kadri Seppa ◽

Maarja Toots ◽

Riin Reimets ◽

Toomas Jagomäe ◽

Tuuliki Koppel ◽

...

Keyword(s):

Diabetes Mellitus ◽

Optic Nerve ◽

Rat Model ◽

Receptor Agonist ◽

Neurodegenerative Disorder ◽

Ganglion Cells ◽

Neuroprotective Effect ◽

Wolfram Syndrome ◽

Retinal Ganglion ◽

Knock Out

Abstract 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.

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