scholarly journals The Role of Centrosome Distal Appendage Proteins (DAPs) in Nephronophthisis and Ciliogenesis

2021 ◽  
Vol 22 (22) ◽  
pp. 12253
Author(s):  
Fatma Mansour ◽  
Felix J. Boivin ◽  
Iman B. Shaheed ◽  
Markus Schueler ◽  
Kai M. Schmidt-Ott
Keyword(s):  
Primary Cilium ◽  
Mammalian Cells ◽  
Vital Role ◽  
Vesicle Docking ◽  
Genes Encoding ◽  
Mother Centriole ◽  
Stage Renal Disease ◽  
End Stage ◽  
And Function

The primary cilium is found in most mammalian cells and plays a functional role in tissue homeostasis and organ development by modulating key signaling pathways. Ciliopathies are a group of genetically heterogeneous disorders resulting from defects in cilia development and function. Patients with ciliopathic disorders exhibit a range of phenotypes that include nephronophthisis (NPHP), a progressive tubulointerstitial kidney disease that commonly results in end-stage renal disease (ESRD). In recent years, distal appendages (DAPs), which radially project from the distal end of the mother centriole, have been shown to play a vital role in primary ciliary vesicle docking and the initiation of ciliogenesis. Mutations in the genes encoding these proteins can result in either a complete loss of the primary cilium, abnormal ciliary formation, or defective ciliary signaling. DAPs deficiency in humans or mice commonly results in NPHP. In this review, we outline recent advances in our understanding of the molecular functions of DAPs and how they participate in nephronophthisis development.

scholarly journals Peran Perawat Dalam Meningkatkan Kualitas Pasien Peritonial Dialisis

2007 ◽  
Vol 11 (1) ◽  
pp. 25-29
Author(s):  
Krisna Yetti
Keyword(s):  
Peritoneal Dialysis ◽  
Care Provider ◽  
End Stage Renal Disease ◽  
The Other ◽  
Stage Renal Disease ◽  
End Stage ◽  
And Function ◽  
Role And Function

AbstrakContinuous Ambulatory Peritoneal Dialysis (CAPD) merupakan salah satu terapi pengganti pada Penyakit Ginjal Tahap Akhir (PGTA). Empat area yang menjadi tanggung jawab perawat CAPD adalah predialisis, rawat inap, sebelum dan selama pelatihan CAPD, serta pada saat pasien di rumah. Merujuk pada empat peran perawat, yaitu sebagai praktisi, pengelola, peneliti, dan pendidik, maka peran perawat CAPD mempunya peran dan fungsi yang berbeda pula pada masing-masing area ini. Tujuan utama peran dan fungsi perawat di setiap area ini adalah agar layanan keperawatan yang diterima oleh pasien menjadi prima. Pada artikel ini dibahas peran perawat sebagai praktisi dan pengelola pelayanan keperawatan. Sedangkan dua peran lagi yaitu pendidik dan peneliti tidak dibahas. AbstractContinuous Ambulatory Peritoneal Dialysis (CAPD) is one of replacement therapy of End Stage Renal Disease (ESRD). CAPD nurse takes the responsibility in four areas. Those are pre-dialysis stage, during hospitalization, before and during peritoneal dialysis training, and patient at home. Refer to the roles of the nurses, as a care provider, manager, educator and researcher, CAPD nurse has a comprehensible role and function. This comprehensible role and function is also applied in this each area in order to get the better quality of life of the CAPD patients. In this article the role of care provider and manager are discussed. However, the other two, educator and researcher roles are not discussed.

scholarly journals The retromer complex regulates C. elegans development and mammalian ciliogenesis

2021 ◽  
Author(s):  
Shuwei Xie ◽  
Ellie Smith ◽  
Carter Dierlam ◽  
Danita Mathew ◽  
Angelina Davis ◽  
...  
Keyword(s):  
Potential Function ◽  
Primary Cilium ◽  
Mammalian Cells ◽  
Primary Cilia ◽  
Vulval Development ◽  
Sorting Nexin ◽  
Capping Protein ◽  
C Elegans ◽  
Retromer Complex ◽  
Mother Centriole

The mammalian retromer is comprised of subunits VPS26, VPS29 and VPS35, and a more loosely-associated sorting nexin (SNX) heterodimer. Despite known roles for the retromer in multiple trafficking events in yeast and mammalian cells, its role in development is poorly understood, and its potential function in primary ciliogenesis remains unknown. Using CRISPR-Cas9 editing, we demonstrated that vps-26 homozygous knockout C. elegans have reduced brood sizes and impaired vulval development, as well as decreased body length which has been linked to defects in primary ciliogenesis. Since many endocytic proteins are implicated in the generation of primary cilia, we addressed whether the retromer regulates ciliogenesis in mammalian cells. We observed VPS35 localized to the primary cilium, and depletion of VPS26, VPS35 or SNX1/SNX5 led to decreased ciliogenesis. Retromer also coimmunoprecipitated with the capping protein, CP110, and was required for its removal from the mother centriole. Herein, we characterize new roles for the retromer in C. elegans development and in the regulation of ciliogenesis in mammalian cells, and suggest a novel role for the retromer in CP110 removal from the mother centriole.

scholarly journals Inherited podocytopathies

2008 ◽  
Vol 136 (Suppl. 4) ◽  
pp. 327-339
Author(s):  
Radovan Bogdanovic
Keyword(s):  
Congenital Nephrotic Syndrome ◽  
Structural Studies ◽  
Glomerular Filtration Barrier ◽  
Filtration Barrier ◽  
Glomerular Epithelial Cells ◽  
Causes Of Disease ◽  
Stage Renal Disease ◽  
End Stage ◽  
Made In

Podocytes, the visceral glomerular epithelial cells, are the postmythotic cells that line the outer aspects of the glomerular basement membrane. A number of advances have been made in recent years, linked to the discovery of singlegene defects in hereditary glomerular disease, which highlight the role of these cells in preventing proteinuria. Despite the rarity of hereditary proteinuric syndromes, genetic, biochemical, and structural studies of these diseases have made important contributions to our knowledge of how the normal glomerular filter works and the mechanism of proteinuria. The course of these diseases can vary; some patients present with severe proteinuria and congenital nephrotic syndrome, whereas others have only moderate proteinuria and focal segmental glomerulosclerosis. Regardless of its cause, the disease often progresses to end-stage renal disease. There can be overlap between the diseases: mutations in the same gene can lead to different renal phenotypes. It is important to know that some hereditary podocytopathies respond to therapy, whereas majority does not. For this reason, genetic testing, which is available for some hereditary podocytopathies should be performed whenever possible. This review summarizes recent progress in the eludication of genetic causes of disease and discusses their implication for the understanding of the pathogenic mechanisms which can lead to disruption of the glomerular filtration barrier.

scholarly journals GJA1 Depletion Causes Ciliary Defects by Affecting Rab11 Trafficking to the Ciliary Base

2020 ◽  
Author(s):  
Dong Gil Jang ◽  
Keun Yeong Kwon ◽  
Yeong Cheon Kweon ◽  
Byung-gyu Kim ◽  
Kyungjae Myung ◽  
...  
Keyword(s):  
Gap Junction ◽  
Primary Cilium ◽  
Transport Channel ◽  
Junction Protein ◽  
Complex Functions ◽  
Mother Centriole ◽  
Pericentriolar Material ◽  
Gap Junction Protein ◽  
And Function ◽  
Distinct Distribution

AbstractThe gap junction complex functions as a transport channel across the membrane. Among gap junction subunits, gap junction protein alpha 1 (GJA1) is the most commonly expressed subunit. However, the roles of GJA1 in the formation and function of cilia remain unknown. Here, we examined GJA1 functions during ciliogenesis in vertebrates. GJA1 was localized to the motile ciliary axonemes or pericentriolar material (PCM) around the primary cilium. GJA1 depletion caused the severe malformation of both primary cilium and motile cilia. Interestingly, GJA1 depletion caused strong delocalization of BBS4 from the PCM and basal body and distinct distribution as cytosolic puncta. Further, CP110 removal from the mother centriole was significantly reduced by GJA1 depletion. Importantly, Rab11, key regulator during ciliogenesis, was immunoprecipitated with GJA1 and GJA1 knockdown caused the mis-localization and mis-accumulation of Rab11. These findings suggest that GJA1 is necessary for proper ciliogenesis by regulating the Rab11 pathway.

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.

scholarly journals Successful multiple-exchange peritoneal dialysis in a patient with severe hematological toxicity by methotrexate: case report and literature review

2019 ◽  
Vol 41 (3) ◽  
pp. 427-432 ◽  
Author(s):  
Arbey Aristizabal-Alzate ◽  
John Fredy Nieto-Rios ◽  
Catalina Ocampo-Kohn ◽  
Lina Maria Serna-Higuita ◽  
Diana Carolina Bello-Marquez ◽  
...  
Keyword(s):  
Peritoneal Dialysis ◽  
Therapeutic Option ◽  
Supportive Therapy ◽  
Hematological Toxicity ◽  
High Morbidity ◽  
Multiple Exchange ◽  
Severe Pancytopenia ◽  
Stage Renal Disease ◽  
End Stage

Abstract Methotrexate is an effective medication to control several diseases; however, it can be very toxic, being myelosuppression one of its main adverse effects, which increases in severity and frequency in patients with renal failure. We present the case of a 68-year-old man with chronic, end-stage renal disease associated with ANCA vasculitis, under treatment with peritoneal dialysis, who received the medication at a low dose, indicated by disease activity, which presented as a complication with severe pancytopenia with mucositis that improved with support measures and multiple-exchange peritoneal dialysis. We reviewed 20 cases published to date of pancytopenia associated with methotrexate in patients on dialysis and found high morbidity and mortality, which is why its use in this type of patient is not recommended. However, when this complication occurs, a therapeutic option could be the use of multiple-exchange peritoneal dialysis in addition to supportive therapy for drug-related toxicity, although it is recognized that studies are required to show the role of multiple-exchange peritoneal dialysis in the removal of this medication.

Sign in / Sign up

Export Citation Format

Share Document