Turkish Scientists Uncover Critical Gene Linked to Childhood Kidney Failure
Ankara, The Gulf Observer: In a pioneering contribution to international medical literature, Turkish experts have identified a mutation in the protein-coding gene FOXD2 as a significant factor leading to chronic kidney failure in children. This groundbreaking discovery, marking the first time the FOXD2 gene’s association with Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) has been established worldwide, is the result of a collaborative scientific study initiated in 2021.
Dr. Fatih Ozaltin, a distinguished faculty member of the Department of Pediatric Nephrology at Hacettepe University, disclosed that the research was conducted in partnership with Istanbul University Cerrahpasa Faculty of Medicine and the Technical University of Munich. The study, titled “Investigation of New Genes in Inherited Rare Kidney Diseases,” focused on two siblings diagnosed with CAKUT, born from consanguineous marriage, prompting an in-depth exploration into genetic factors within the family.
Dr. Ozaltin elaborated on the study’s progression, stating, “Our scientific study led us to the FOXD2 gene. We have initiated further research on how mutations in this gene lead to CAKUT anomalies.” He emphasized the vital role the FOXD2 gene plays in regulating significant stages of kidney development in fetuses and the urinary system.
The collaboration between the Turkish and German institutions revealed that the FOXD2 gene is pivotal in regulating crucial stages of kidney development in fetuses, a finding confirmed through animal experiments. The identification of another family with a mutation in the same gene by the Technical University of Munich underscores the international significance of this collaborative effort.
Dr. Ozaltin highlighted that the preliminary results of the comprehensive study have been published, noting that similar cases have been reported by experts in Israel. “We identified three different mutations in the same gene and three different families for a sporadic disease worldwide. This finding became one of the most significant pieces of evidence proving that the disorder in the FOXD2 gene is responsible for CAKUT anomaly,” he stated.
CAKUT, the leading cause of end-stage kidney failures in children, necessitating dialysis and transplantation, is a congenital health issue arising from developmental problems related to the kidneys in the mother’s womb. Dr. Ozaltin emphasized the importance of understanding the genetic aspects of CAKUT, particularly in families with FOXD2 gene mutations.
“Informing families and avoiding consanguineous marriages are crucial steps in reducing the ratio of rare diseases,” Dr. Ozaltin concluded. The study’s significance lies not only in elucidating the underlying mechanisms of the disease but also in paving the way for the development of targeted and effective treatments for affected individuals.
