Limits...
Genetics of hereditary nephrotic syndrome: a clinical review

View Article: PubMed Central - PubMed

ABSTRACT

Advances in podocytology and genetic techniques have expanded our understanding of the pathogenesis of hereditary steroid-resistant nephrotic syndrome (SRNS). In the past 20 years, over 45 genetic mutations have been identified in patients with hereditary SRNS. Genetic mutations on structural and functional molecules in podocytes can lead to serious injury in the podocytes themselves and in adjacent structures, causing sclerotic lesions such as focal segmental glomerulosclerosis or diffuse mesangial sclerosis. This paper provides an update on the current knowledge of podocyte genes involved in the development of hereditary nephrotic syndrome and, thereby, reviews genotype-phenotype correlations to propose an approach for appropriate mutational screening based on clinical aspects.

No MeSH data available.


Related in: MedlinePlus

Schematic view of podocyte gene mutations associated with nephrotic syndrome indicated in Table 1.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
getmorefigures.php?uid=PMC5383633&req=5

Figure 1: Schematic view of podocyte gene mutations associated with nephrotic syndrome indicated in Table 1.

Mentions: Genetic mutations affect proteins that are expressed at a variety of locations within the podocyte, including the cell membrane, nucleus, cytoskeleton, mitochondria, lysosomes, and intracellular cytoplasm (Fig. 1). The podocyte proteins uncovered so far belong to the following categories: (1) located at the SD and connected adaptor proteins, (2) involved in regulation of actin dynamics, which are essential for the maintenance of podocyte structure and function, (3) adhesive proteins at the basal membrane and GBM components, (4) apical membrane proteins related to cell polarity, (5) nuclear transcription factors, (6) proteins belonging to intracellular organelles such as mitochondria and lysosomes, which are central players in podocyte metabolism, and (7) other intracellular proteins (Table 1)3233343536).


Genetics of hereditary nephrotic syndrome: a clinical review
Schematic view of podocyte gene mutations associated with nephrotic syndrome indicated in Table 1.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC5383633&req=5

Figure 1: Schematic view of podocyte gene mutations associated with nephrotic syndrome indicated in Table 1.
Mentions: Genetic mutations affect proteins that are expressed at a variety of locations within the podocyte, including the cell membrane, nucleus, cytoskeleton, mitochondria, lysosomes, and intracellular cytoplasm (Fig. 1). The podocyte proteins uncovered so far belong to the following categories: (1) located at the SD and connected adaptor proteins, (2) involved in regulation of actin dynamics, which are essential for the maintenance of podocyte structure and function, (3) adhesive proteins at the basal membrane and GBM components, (4) apical membrane proteins related to cell polarity, (5) nuclear transcription factors, (6) proteins belonging to intracellular organelles such as mitochondria and lysosomes, which are central players in podocyte metabolism, and (7) other intracellular proteins (Table 1)3233343536).

View Article: PubMed Central - PubMed

ABSTRACT

Advances in podocytology and genetic techniques have expanded our understanding of the pathogenesis of hereditary steroid-resistant nephrotic syndrome (SRNS). In the past 20 years, over 45 genetic mutations have been identified in patients with hereditary SRNS. Genetic mutations on structural and functional molecules in podocytes can lead to serious injury in the podocytes themselves and in adjacent structures, causing sclerotic lesions such as focal segmental glomerulosclerosis or diffuse mesangial sclerosis. This paper provides an update on the current knowledge of podocyte genes involved in the development of hereditary nephrotic syndrome and, thereby, reviews genotype-phenotype correlations to propose an approach for appropriate mutational screening based on clinical aspects.

No MeSH data available.


Related in: MedlinePlus