Autosomal-Dominant Polycystic Kidney Disease and Hypertension: A Review

Florijn, K. W.; Saase, Jan L.C.M. van; Breuning, Martijn H.; Chang, P. C.

doi:10.1159/000421646

Cited by 5 publications

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“…[18][19][20] High blood pressure, aneurysms and heart valve abnormalities are additional complications of the disease. 21,22 In most ADPKD patients a mutation in either the PKD1 or PKD2 gene is responsible for the disease. The majority of identified mutations in both genes leads to a premature translation stop, most likely resulting in truncation of the protein product.…”

Section: Introductionmentioning

confidence: 99%

Genes homologous to the autosomal dominant polycystic kidney disease genes (PKD1 and PKD2)

et al. 1999

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Autosomal Dominant Polycystic Kidney Disease (ADPKD), a common inherited disease leading to progressive renal failure, can be caused by a mutation in either the PKD1 or PKD2 gene. Both genes encode for putative transmembrane proteins, polycystin-1 and polycystin-2, which show significant homology to each other and are believed to interact at their carboxy termini. To identify genes that code for related proteins we searched for homologous sequences in several databases and identified one partial cDNA and two genomic sequences with significant homology to both polycystin-1 and -2. Further analysis revealed one novel gene, PKD2L2, located on chromosome band 5q31, and two recently described genes, PKD2L and PKDREJ, located on chromosome bands 10q31 and 22q13.3, respectively. PKD2L2 and PKD2L, which encode proteins of 613 and 805 amino acids, are approximately 65% similar to polycystin-2. The third gene, PKDREJ, encodes a putative 2253 amino acid protein and shows about 35% similarity to both polycystin-1 and polycystin-2. For all the genes expression was found in testis. Additional expression of PKD2L was observed in retina, brain, liver and spleen by RT-PCR. Analyses of five ADPKD families without clear linkage to either the PKD1 or PKD2 locus showed no linkage to any of the novel loci, excluding these genes as the cause of ADPKD in these families. Although these genes may not be involved in renal cystic diseases, their striking homology to PKD2 and PKD1 implies similar roles and may contribute to elucidating the function of both polycystin-1 and polycystin-2.

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Section: Introductionmentioning

confidence: 99%

Genes homologous to the autosomal dominant polycystic kidney disease genes (PKD1 and PKD2)

et al. 1999

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Weston

1997

The Histochemical Journal

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Normal renal tissue, ranging from 8 weeks' gestation to full term to adult, was probed with polyclonal antibodies raised to peptide epitopes within the translated PKD1 gene sequence. Three antibodies were studied, all of which gave similar results. Renal tissue from patients with autosomal dominant polycystic kidney disease (ADPKD) and samples from normal adult liver, heart, brain, skeletal muscle and lymph node were also studied. Tissue staining demonstrated that the pattern of polycystin expression changed with gestational age in normal kidney. Whereas the precursors to the renal excretory unit were stained at 12 weeks, and the proximal and distal convoluted tubules stained to differing degrees throughout development, the glomeruli were poorly stained until full term and also in the adult. Extrarenal tissue stained in both adult and juvenile samples, with the exception of lymph node, which remained unstained. The intensity of polycystin staining increased in ADPKD renal tissue. The widespread distribution of polycystin was consistent with the systemic nature of ADPKD and the role of epithelial cells in the disease.

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A Spectrum of Mutations in the Second Gene for Autosomal Dominant Polycystic Kidney Disease (PKD2)

Veldhuisen¹,

Saris²,

Haij³

et al. 1997

The American Journal of Human Genetics

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Recently the second gene for autosomal dominant polycystic kidney disease (ADPKD), located on chromosome 4q21-q22, has been cloned and characterized. The gene encodes an integral membrane protein, polycystin-2, that shows amino acid similarity to the PKD1 gene product and to the family of voltage-activated calcium (and sodium) channels. We have systematically screened the gene for mutations by single-strand conformation-polymorphism analysis in 35 families with the second type of ADPKD and have identified 20 mutations. So far, most mutations found seem to be unique and occur throughout the gene, without any evidence of clustering. In addition to small deletions, insertions, and substitutions leading to premature translation stops, one amino acid substitution and five possible splice-site mutations have been found. These findings suggest that the first step toward cyst formation in PKD2 patients is the loss of one functional copy of polycystin-2.

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Autosomal-Dominant Polycystic Kidney Disease and Hypertension: A Review

Cited by 5 publications

References 0 publications

Genes homologous to the autosomal dominant polycystic kidney disease genes (PKD1 and PKD2)

Genes homologous to the autosomal dominant polycystic kidney disease genes (PKD1 and PKD2)

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A Spectrum of Mutations in the Second Gene for Autosomal Dominant Polycystic Kidney Disease (PKD2)

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