Retinitis pigmentosa and Aortic Regurgitation in a Patient with Adult Polycystic Kidney Disease

Mavromatidis, K.; Sombolos, Kostas; Zoumbaridis, Nikolaos; Natse, Taïsir; Panidou-Kiriakidou, I.; Hagekostas, G.

doi:10.1159/000186717

Cited by 6 publications

(3 citation statements)

References 3 publications

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“…In addition, we demonstrate not only an interaction between RP2 and polycystin 2, but that polycystin 2 trafficking in the cilium may also be regulated by RP2. Interestingly, RP has been observed occasionally in ADPKD patients (43)(44)(45)(46) and in a polycystin 2 mutant rat model (47), suggesting that in RP2 patients polycystin 2 dysfunction may have relevance for the disease process.…”

Section: Discussionmentioning

confidence: 99%

The retinitis pigmentosa protein RP2 interacts with polycystin 2 and regulates cilia-mediated vertebrate development

Hurd

Zhou

Jenkins³

et al. 2010

Human Molecular Genetics

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Ciliopathies represent a growing group of human genetic diseases whose etiology lies in defects in ciliogenesis or ciliary function. Given the established entity of renal-retinal ciliopathies, we have been examining the role of cilia-localized proteins mutated in retinitis pigmentosa (RP) in regulating renal ciliogenesis or cilia-dependent signaling cascades. Specifically, this study examines the role of the RP2 gene product with an emphasis on renal and vertebrate development. We demonstrate that in renal epithelia, RP2 localizes to the primary cilium through dual acylation of the amino-terminus. We also show that RP2 forms a calcium-sensitive complex with the autosomal dominant polycystic kidney disease protein polycystin 2. Ablation of RP2 by shRNA promotes swelling of the cilia tip that may be a result of aberrant trafficking of polycystin 2 and other ciliary proteins. Morpholino-mediated repression of RP2 expression in zebrafish results in multiple developmental defects that have been previously associated with ciliary dysfunction, such as hydrocephalus, kidney cysts and situs inversus. Finally, we demonstrate that, in addition to our observed physical interaction between RP2 and polycystin 2, dual morpholino-mediated knockdown of polycystin 2 and RP2 results in enhanced situs inversus, indicating that these two genes also regulate a common developmental process. This work suggests that RP2 may be an important regulator of ciliary function through its association with polycystin 2 and provides evidence of a further link between retinal and renal cilia function.

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Section: Discussionmentioning

confidence: 99%

The retinitis pigmentosa protein RP2 interacts with polycystin 2 and regulates cilia-mediated vertebrate development

Hurd

Zhou

Jenkins³

et al. 2010

Human Molecular Genetics

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“…Visual defects in patients with ADPKD include myopia, central cataract, retinal dystrophy, blindness, and reticular corneal dystrophy [5,6]. In the literature, we found only one case report with retinitis pigmentosa and ADPKD [5].…”

Section: Discussionmentioning

confidence: 86%

“…Many hereditary renal diseases have been described in association with retinitis pigmentosa, including Bardet-Biedl syndrome, Alport syndrome, Fanconi syndrome (Kearns-Sayre syndrome), and nephronophtisis (Senior-Loken syndrome) [2][3][4]. Concurrent ADPKD and retinitis pigmentosa was reported in only one case in literature [5]. We herein report the first case that presented ophthalmic symptoms before the diagnosis of ADPKD.…”

Section: Introductionmentioning

confidence: 99%

Does retinitis pigmentosa relate with polycystic kidney disease?

et al. 2010

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Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic disorders. A 21-year-old woman presented with temporary visual loss and gross hematuria. Fundoscopy showed retinitis pigmentosa, which was confirmed by electroretinogram. Her serum creatinine concentration was 1.6 mg/dl, and her renal ultrasonography revealed bilateral polycystic kidneys; she was unaware of having this condition. In this patient, there was probably an inherited ciliary defect, which may explain the association of ADPKD and retinitis pigmentosa.

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Aortic Insufficiency

Quin¹,

Elefteriades²

2000

Textbook of Angiology

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Retinitis pigmentosa and Aortic Regurgitation in a Patient with Adult Polycystic Kidney Disease

Cited by 6 publications

References 3 publications

The retinitis pigmentosa protein RP2 interacts with polycystin 2 and regulates cilia-mediated vertebrate development

The retinitis pigmentosa protein RP2 interacts with polycystin 2 and regulates cilia-mediated vertebrate development

Does retinitis pigmentosa relate with polycystic kidney disease?

Aortic Insufficiency

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