Effect of ACE gene polymorphism on age at renal death in polycystic kidney disease in Japan

Konoshita, Tadashi; Miyagi, Kyoko; Onoe, Tamehito; Katano, Kuniyuki; Mutoh, H.; Nomura, Hideki; Koni, Ichiro; Miyamori, Isamu; Mabuchi, Hiroshi

doi:10.1053/ajkd.2001.20595

Cited by 26 publications

(21 citation statements)

References 31 publications

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“…The ACE DD genotype had an overwhelming frequency of parenchymal damage and an earlier use of angiotensin converting enzyme inhibitors was thought to prevent this damage [19]. The ACE DD genotype in children with congenital renal malformations was a significant risk factor for the development of chronic renal failure.…”

Section: Discussionmentioning

confidence: 99%

“…The ACE gene deletion polymorphism (DD genotype) is associated with the largest amount of angiotensin converting enzyme and angiotensin II, which has hemodynamic, growth, and prosclerotic effects [7]. The ACE DD genotype has been suggested as an independent cardiovascular risk factor [8,9,10] and also as a predictor of progressive glomerulosclerosis in diabetic nephropathy [11,12,13], IgA nephropathy [14,15,16], and other chronic renal diseases [17,18,19,20,21]. In VUR, contradictory results were reported for the ACE gene polymorphism and reflux nephropathy [22,23].…”

Section: Introductionmentioning

confidence: 99%

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ACE gene polymorphism and renal scar in children with acute pyelonephritis

Cho¹,

Lee²

2002

Pediatr Nephrol

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The pathogenesis of renal scarring after acute pyelonephritis (APN) in children is multifactorial. In addition to well-known risk factors (young age, high grade of vesicoureteral reflux, P-fimbriated Escherichia coli, and treatment delay), a role for genetic predisposition has been suggested. Since the ACE gene deletion polymorphism is a known risk factor for progressive glomerulosclerosis in chronic renal diseases, we have investigated the relationship between the ACE genotypes and the development of renal scarring after APN. Fifty-nine children (43 males and 16 females) with APN diagnosed by urine culture and technetium-99m-dimercaptosuccinic acid ((99)Tc-DMSA) renal scan were studied. ACE genotypes were determined as II, ID, and DD using the polymerase chain reaction technique. A follow-up (99)Tc-DMSA renal scan was performed to evaluate the development of renal scars 3-6 months after treatment. The distribution of ACE genotypes and the allele frequencies were compared in the renal scar-positive ( n=39) and -negative group ( n=20). ACE genotype frequency after stratification by risk factors was also evaluated. The distribution of ACE genotypes did not differ between the renal scar-positive (II 25.9%, ID 35.9%, DD 28.2%) and -negative group (II 35.0%, ID 45.0%, DD 20.0%), before and after stratification by each risk factor. ACE gene deletion polymorphism did not affect the development of renal scar as an independent variable in children with APN.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

ACE gene polymorphism and renal scar in children with acute pyelonephritis

Cho¹,

Lee²

2002

Pediatr Nephrol

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“…158,159 ADPKD patients with the ACE D/D genotype have a 5–10 years earlier onset of ESRD than those with the I/I genotype. 160–162 The progression of IgA nephropathy and ADPKD into ESRD are both influenced by the Nos3 polymorphism. 163 In humans, polymorphisms in most of the genes in the KKS have also been associated with the progression of CRF into ESRD, including ACE , 164,165 Bdkrb1 , 166,167 Bdkrb2 , 167,168 and Nos3 .…”

Section: Relevance Of the Kks To Renal Diseases In Humansmentioning

confidence: 99%

The kallikrein–kinin system in health and in diseases of the kidney

Kakoki

Smithies

2009

Kidney International

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Since kallikrein was discovered as a vasodilatory substance in human urine, the kallikrein–kinin system (KKS) has been considered to play a physiological role in controlling blood pressure. Gene targeting experiments in mice in which the KKS has been inactivated to varying degrees have, however, questioned this role, because basal blood pressures are not altered. Rather, these experiments have shown that the KKS has a different and important role in preventing changes associated with normal senescence in mice, and in reducing the nephropathy and accelerated senescence-associated phenotypes induced in mice by diabetes. Other experiments have shown that the KKS suppresses mitochondrial respiration, partly by nitric oxide and prostaglandins, and that this suppression may be a key to understanding how the KKS influences senescence-related diseases. Here we review the logical progression and experimental data leading to these conclusions, and discuss their relevance to human conditions.

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“…Linkage Analysis-Genomic DNAs were extracted from peripheral blood leukocytes of the family members from whom informed consent had been obtained, according to standard procedures (33). Linkage analysis was performed using four CA-repeat markers for the PKD1 locus (D16S521, D16S3024, D16S3027, D16S423) and four for the PKD2 locus (D4S2964, D4S1534, D4S414, D4S1572) as described elsewhere (34).…”

Section: Methodsmentioning

confidence: 99%

A Pathogenic C Terminus-truncated Polycystin-2 Mutant Enhances Receptor-activated Ca2+ Entry via Association with TRPC3 and TRPC7

Miyagi

Kiyonaka

Yamada

et al. 2009

Journal of Biological Chemistry

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Mutations in PKD2 gene result in autosomal dominant polycystic kidney disease (ADPKD). PKD2 encodes polycystin-2 (TRPP2), which is a homologue of transient receptor potential (TRP) cation channel proteins. Here we identify a novel PKD2 mutation that generates a C-terminal tail-truncated TRPP2 mutant 697fsX with a frameshift resulting in an aberrant 17-amino acid addition after glutamic acid residue 697 from a family showing mild ADPKD symptoms. When recombinantly expressed in HEK293 cells, wild-type (WT) TRPP2 localized at the endoplasmic reticulum (ER) membrane significantly enhanced Ca 2؉ release from the ER upon muscarinic acetylcholine receptor (mAChR) stimulation. In contrast, 697fsX, which showed a predominant plasma membrane localization characteristic of TRPP2 mutants with C terminus deletion, prominently increased mAChR-activated Ca 2؉ influx in cells expressing TRPC3 or TRPC7. Coimmunoprecipitation, pulldown assay, and cross-linking experiments revealed a physical association between 697fsX and TRPC3 or TRPC7. 697fsX but not WT TRPP2 elicited a depolarizing shift of reversal potentials and an enhancement of single-channel conductance indicative of altered ion-permeating pore properties of mAChR-activated currents. Importantly, in kidney epithelial LLC-PK1 cells the recombinant 679fsX construct was codistributed with native TRPC3 proteins at the apical membrane area, but the WT construct was distributed in the basolateral membrane and adjacent intracellular areas. Our results suggest that heteromeric cation channels comprised of the TRPP2 mutant and the TRPC3 or TRPC7 protein induce enhanced receptor-activated Ca 2؉

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Effect of ACE gene polymorphism on age at renal death in polycystic kidney disease in Japan

Cited by 26 publications

References 31 publications

ACE gene polymorphism and renal scar in children with acute pyelonephritis

ACE gene polymorphism and renal scar in children with acute pyelonephritis

The kallikrein–kinin system in health and in diseases of the kidney

A Pathogenic C Terminus-truncated Polycystin-2 Mutant Enhances Receptor-activated Ca2+ Entry via Association with TRPC3 and TRPC7

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