Síndrome de Wolfram

Vilan, Ana; Faria, Olinda; Campos, María Manuel

doi:10.33588/rn.4904.2008236

Cited by 2 publications

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“…Autosomal-recessive causes of childhood-onset monogenic diabetes commonly present with syndromic diabetes (diabetes and additional nonautoimmune features). For instance, individuals carrying homozygous loss-of-function variants in WFS1, SLC19A2, and SLC29A3 develop diabetes in childhood with multiple nonautoimmune additional features (1)(2)(3). Autosomal-recessive genetic diseases are enriched in populations with high rates of consanguinity (4).…”

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confidence: 99%

Loss of MANF Causes Childhood-Onset Syndromic Diabetes Due to Increased Endoplasmic Reticulum Stress

et al. 2021

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Mesencephalic astrocyte-derived neurotrophic factor (MANF) is an endoplasmic reticulum (ER)-resident protein that plays a crucial role in attenuating ER stress responses. Although MANF is indispensable for the survival and function of mouse b-cells, its precise role in human b-cell development and function is unknown. In this study, we show that lack of MANF in humans results in diabetes due to increased ER stress, leading to impaired b-cell function. We identified two patients from different families with childhood diabetes and a neurodevelopmental disorder associated with homozygous loss-of-function mutations in the MANF gene. To study the role of MANF in human b-cell development and function, we knocked out the MANF gene in human embryonic stem cells and differentiated them into pancreatic endocrine cells. Loss of MANF induced mild ER stress and impaired insulin-processing capacity of b-cells in vitro. Upon implantation to immunocompromised mice, the MANF knockout grafts presented elevated ER stress and functional failure, particularly in recipients with diabetes. By describing a new form of monogenic neurodevelopmental diabetes syndrome caused by disturbed ER function, we highlight the importance of adequate ER stress regulation for proper human b-cell function and demonstrate the crucial role of MANF in this process.

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confidence: 99%

Loss of MANF Causes Childhood-Onset Syndromic Diabetes Due to Increased Endoplasmic Reticulum Stress

et al. 2021

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“…Este tipo de patologías crónicas progresivas y de inicio en la infancia requieren valoración también en el plano psicológico y social tanto del afectado como de la familia 10 .…”

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Una familia con síndrome de Wolfram

Esteban-Bueno¹,

García²,

Velasco

et al. 2013

Rev Clin Med Fam

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Recibido el 20 de mayo de 2013. Aceptado para su publicación el 3 de abril de 2013. RESUMEN El Síndrome de Wolfram o DIDMOAD es una compleja entidad cuyos principales componentes son diabetes mellitus, diabetes insípida, atrofia óptica y sordera. Además se suelen asociar otras alteraciones en frecuencia variable. Es una patología considerada rara por su baja prevalencia y sus repercusiones psicosociales. Se manifiesta durante la infancia siendo de carácter degenerativo y progresivo. Se asocia generalmente a trasmisión autosómica recesiva. Como ejemplo de este síndrome presentamos el caso de una familia compuesta por tres hermanos afectos.

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Síndrome de Wolfram

Cited by 2 publications

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Loss of MANF Causes Childhood-Onset Syndromic Diabetes Due to Increased Endoplasmic Reticulum Stress

Loss of MANF Causes Childhood-Onset Syndromic Diabetes Due to Increased Endoplasmic Reticulum Stress

Una familia con síndrome de Wolfram

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