scholarly journals Transcription and translation of APOL1 variants

2017 ◽  
Vol 37 (5) ◽  
Author(s):  
Samina Ejaz
Keyword(s):  
Trypanosoma Brucei ◽  
Genetic Variants ◽  
End Stage Renal Disease ◽  
Molecular Mechanisms ◽  
Genetic Mutations ◽  
Major Focus ◽  
Molecular Alterations ◽  
Stage Renal Disease ◽  
End Stage

It is highly important to document the molecular alterations existing in normal cells prior to the onset of any disease. Knowledge of genetic mutations and associated molecular mechanisms will be helpful for better diagnosis and management of disease. The major focus of this commentary on providing understanding about the apolipoprotein 1 (APOL1) gene, the protein encoded by this gene (apoL1) and the mechanistic details regarding the role of apoL1 in the lysis of Trypanosoma brucei. Information about APOL1 genetic variants, APOL1G1 and APOL1G2, is provided along with the association of these variants with hypertension-attributed end-stage renal disease (ESRD) and focal segmental glomerulosclerosis (FSGS). Moreover, this commentary presents a brief overview of how the authors of a recent Bioscience Reports article [Haque et al (2017) 37, BSR20160531, doi: 10.1042/BSR20160531] have evaluated the functional impact of G1 and G2 alleles on the transcription and translation of APOL1 mRNA.

Role of non-HLA genetic variants in end-stage renal disease

2009 ◽  
Vol 74 (2) ◽  
pp. 147-155 ◽  
Author(s):  
P. Ranganath ◽  
G. Tripathi ◽  
R. K. Sharma ◽  
S. N. Sankhwar ◽  
S. Agrawal
Keyword(s):  
Renal Disease ◽  
Genetic Variants ◽  
End Stage Renal Disease ◽  
Stage Renal Disease ◽  
End Stage

The Potential Role of Catheter-Based Renal Sympathetic Denervation in Chronic and End-Stage Kidney Disease

2016 ◽  
Vol 21 (4) ◽  
pp. 344-352 ◽  
Author(s):  
Yusuke Sata ◽  
Markus P. Schlaich
Keyword(s):  
Blood Pressure ◽  
Renal Function ◽  
Kidney Disease ◽  
End Stage Renal Disease ◽  
Renal Denervation ◽  
Potential Role ◽  
Stage Renal Disease ◽  
End Stage ◽  
Renal Sympathetic

Sympathetic activation is a hallmark of chronic and end-stage renal disease and adversely affects cardiovascular prognosis. Hypertension is present in the vast majority of these patients and plays a key role in the progressive deterioration of renal function and the high rate of cardiovascular events in this patient cohort. Augmentation of renin release, tubular sodium reabsorption, and renal vascular resistance are direct consequences of efferent renal sympathetic nerve stimulation and the major components of neural regulation of renal function. Renal afferent nerve activity directly influences sympathetic outflow to the kidneys and other highly innervated organs involved in blood pressure control via hypothalamic integration. Renal denervation of the kidney has been shown to reduce blood pressure in many experimental models of hypertension. Targeting the renal nerves directly may therefore be specifically useful in patients with chronic and end-stage renal disease. In this review, we will discuss the potential role of catheter-based renal denervation in patients with impaired kidney function and also reflect on the potential impact on other cardiovascular conditions commonly associated with chronic kidney disease such as heart failure and arrhythmias.

Recent Advances in the Management of the Infant, Child, and Adolescent With Chronic Renal Failure

1990 ◽  
Vol 11 (9) ◽  
pp. 277-282
Author(s):  
Richard N. Fine
Keyword(s):  
Renal Failure ◽  
Chronic Renal Failure ◽  
Renal Disease ◽  
End Stage Renal Disease ◽  
Quarter Century ◽  
Irreversible Reduction ◽  
Age Limits ◽  
Stage Renal Disease ◽  
End Stage

The prognosis of the infant, child, or adolescent with chronic renal failure, defined as an irreversible reduction in glomerular filtration rate, has improved during the past quarter century because of the use of dialysis and renal transplantation. These have prolonged lives in previously fatal situations. Because the potential not only to sustain life but also to effect full rehabilitation exists with the introduction of these treatments, it is now imperative that the multisystem consequences of uremia be either minimized or totally avoided in the pediatric patient with chronic renal failure. The role of the pediatrician in managing the infant, child, or adolescent with chronic renal failure should be directed toward minimizing the potentially devastating consequences of uremia so that the patient is in optimal clinical condition when end stage renal disease occurs. INCIDENCE It is difficult to know the incidence and prevalence of chronic renal failure and end stage renal disease in children. Surveys in Europe and North America have been conducted to obtain precise information regarding these issues; not only have the definitions included in these surveys differed, but the upper and lower age limits defining pediatric patients have not been uniform. The available data suggest a prevalence of chronic renal failure of 18.5 per 1 million child population and an incidence of end stage renal disease of from 3 to 6 children per 1 million total population.

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