Molecular Biology, Genetic, and Epigenetics of Kidney Disease Publisher



H Roudgari HASSAN ; Smk Aghamir Seyed Mohammad KAZEM ; Z Ahadi ZEINAB ; R Mashhadi RAHIL ; A Mohammadi ABDOLREZA ; Sr Yahyazadeh Seyed REZA ; P Zahmatkesh PARISA ; M Sheikh MAHDI
Source: Published:2024

Abstract

Congenital abnormalities of the kidney and urinary tract are often seen in children and are an important cause of mortality. These abnormalities phenotypically vary and often affect multiple parts of the urinary tract simultaneously which makes it difficult for clinical classification and diagnosis. Agenesis, hypoplasia, and dysplasia of kidneys constitute a significant part of these abnormalities, and recent and current investigations increasingly reveal more roles for genetic causes. However, overlap between manifestations of such diseases and the challenges that exist for clinical diagnosis make it more difficult to discover new genes that contribute to causation of these abnormalities. Primarily, information about kidney development often come from studies on mouse models or rare syndromic forms of human developmental disorders of the kidney and urinary tract. It has been found that the involved genes usually regulate the mutual induction between the ureteric bud and the metanephric mesenchyme. Strategies for studying genes that cause kidney diseases vary depending on the characteristics of the study population. These strategical approaches range from candidate gene or sequencing studies to correlational studies, using inbred pedigrees or genetic isolates, all of which investigate the structural variation in the genome. Each of these strategies has advantages and disadvantages; however, some of them have led to important discoveries in human diseases. The diversity of kidney disease continues to present a challenge to clinicians who seek accurate diagnosis and geneticists who attempt to uncover the genetic basis of such abnormalities. © 2024 Elsevier B.V., All rights reserved.