Wolfram syndrome 1 (<i>Wfs1</i>) gene expression in the normal mouse visual system

Kawano, June; Tanizawa, Yukio; Shinoda, Koh

doi:10.1002/cne.21734

Cited by 32 publications

(18 citation statements)

References 96 publications

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“…In control mice, Wolframin is expressed in neurons and glial cells of the optic nerve, the SC, the SCN and the visual cortex, while in the retina it was expressed in all neuron subtypes [ 31 ]. In humans, it was found that Wolframin is abundant in retinal ganglion cells (RGCs), cell bodies and initial portion of axons, so RGCs could be affected by Wolframin disfunction both at level of the cell body or of the unmyelinated portion of the optic nerve.…”

Section: Discussionmentioning

confidence: 99%

Congenital central diabetes insipidus and optic atrophy in a Wolfram newborn: is there a role for WFS1 gene in neurodevelopment?

et al. 2014

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BackgroundWolfram syndrome (WS) is an autosomal recessive neurodegenerative disorder characterized by diabetes mellitus (DM), optic atrophy (OA), central diabetes insipidus (CDI) and deafness (D).The phenotype of the disease has been associated with several mutations in the WFS1 gene, a nuclear gene localized on chromosome 4. Since the discovery of the association between WFS1 gene and Wolfram syndrome, more than 150 mutations have been identified in WS patients.We previously described the first case of perinatal onset of Wolfram syndrome newborn carrying a segmental uniparental heterodysomy affecting the short arm of chromosome 4 responsible for a significant reduction in wolframin expression.Here we review and discuss the pathophysiological mechanisms that we believe responsible for the perinatal onset of Wolfram syndrome as these data strongly suggest a role for WFS1 gene in foetal and neonatal neurodevelopment.Case presentationWe described a male patient of 30 weeks’ gestation with intrauterine growth restriction and poly-hydramnios.During the first days of life, the patient showed a 19% weight loss associated with polyuria and hypernatremia. The presence of persistent hypernatremia (serum sodium 150 mEq/L), high plasma osmolarity (322 mOsm/L) and low urine osmolarity (190 mOsm/l) with a Uosm/Posm ratio < 1 were consistent with CDI. The diagnosis of CDI was confirmed by the desmopressin test and the brain magnetic resonance imaging (MRI) at 34 weeks of age, that showed the lack of posterior pituitary hyperintense signal. In addition, a bilateral asymmetrical optic nerve hypoplasia associated with right orbital bone hypoplasia was observed, suggesting the diagnosis of WF.During the five years follow-up the patient did not developed glucose intolerance or diabetes mellitus. By the end of the second year of life, primary non-autoimmune central hypothyroidism and mild neurodevelopment retardation were diagnosed.ConclusionsThe analysis of our case, in the light of the most recent literature, suggests a possible role for WFS1 gene in the development of certain brain structures during the fetal period.Wolfram syndrome should be considered in the differential diagnosis of the rare cases of congenital central diabetes insipidus developed in the neonatal period.

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Section: Discussionmentioning

confidence: 99%

Congenital central diabetes insipidus and optic atrophy in a Wolfram newborn: is there a role for WFS1 gene in neurodevelopment?

et al. 2014

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“…The primary antibodies against Brn3a and Brn3c were mouse monoclonal, whereas the Brn3b antibody was goat polyclonal (Table 1; Santa Cruz Biotechnology, Santa Cruz, CA; Wagner et al, 2002; Elshatory et al, 2007; Poche et al, 2008; Kawano et al, 2008). The Brn3a and Brn3c antibodies recognize in Western blot 47‐ and 37‐kDa bands, respectively (manufacturer's specifications).…”

Section: Methodsmentioning

confidence: 99%

Differential expression of Brn3 transcription factors in intrinsically photosensitive retinal ganglion cells in mouse

Jain

Ravindran

Dhingra

2012

J of Comparative Neurology

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Several subtypes of melanopsin-expressing, intrinsically photosensitive retinal ganglion cells (ipRGCs) have been reported. The M1 type of ipRGCs exhibit distinct properties compared with the remaining (non-M1) cells. They differ not only in their soma size and dendritic arbor, but also in their physiological properties, projection patterns, and functions. However, it is not known how these differences arise. We tested the hypothesis that M1 and non-M1 cells express Brn3 transcription factors differentially. The Brn3 family of class IV POU-domain transcription factors (Brn3a, Brn3b, and Brn3c) is involved in the regulation of differentiation, dendritic stratification, and axonal projection of retinal ganglion cells during development. By using double immunofluorescence for Brn3 transcription factors and melanopsin, and with elaborate morphometric analyses, we show in mouse retina that neither Brn3a nor Brn3c are expressed in ipRGCs. However, Brn3b is expressed in a subset of ipRGCs, particularly those with larger somas and lower melanopsin levels, suggesting that Brn3b is expressed preferentially in the non-M1 cells. By using dendritic stratification to distinguish M1 from non-M1 cells, we found that whereas nearly all non-M1 cells expressed Brn3b, a vast majority of the M1 cells were negative for Brn3b. Interestingly, in the small proportion of the M1 cells that did express Brn3b, the expression level of Brn3b was significantly lower than in the non-M1 cells. These results provide insights about how expression of specific molecules in a ganglion cell could be linked to its role in visual function.

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“…Optic atrophy is a consistent finding in all patients. Immunohistochemistric analysis has found that wolframin is expressed in the retinal cells (mainly the amacrine and Muller cells) and in the astrocytes of the optic nerve (42). Dysfunction of wolframin in both these cell populations may explain the progressive optic nerve atrophy in these patients (43).…”

Section: Clinical Featuresmentioning

confidence: 99%

Wolfram syndrome: important implications for pediatricians and pediatric endocrinologists

Kumar

2010

Pediatric Diabetes

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Wolfram syndrome 1 (Wfs1) gene expression in the normal mouse visual system

Cited by 32 publications

References 96 publications

Congenital central diabetes insipidus and optic atrophy in a Wolfram newborn: is there a role for WFS1 gene in neurodevelopment?

Congenital central diabetes insipidus and optic atrophy in a Wolfram newborn: is there a role for WFS1 gene in neurodevelopment?

Differential expression of Brn3 transcription factors in intrinsically photosensitive retinal ganglion cells in mouse

Wolfram syndrome: important implications for pediatricians and pediatric endocrinologists

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