Speaker Credentials
OMS-I
College
Dr. Kiran C. Patel College of Osteopathic Medicine, DO
Medical Specialty
Urology
Format
Poster
Start Date
November 2024
End Date
November 2024
Track
4
Abstract
The Role of KCTD13 in Androgen Receptor Ubiquitination Faith Abraham1, Ahmed Chahdi, PhD2, Caroline Jorgez, PhD3, and Abhishek Seth, MD2 1Class of 2024, Dr. Kiran C. Patel College of Osteopathic Medicine, 2Urology, Nemours Children’s Hospital, Orlando, FL 3Urology, Baylor College of Medicine, Houston, TX Objective: This study was conducted to determine the effect of the KCTD13 gene on major protein effectors of common genitourinary (GU) defects. Background: Hypospadias, characterized by the ventral positioning of the urethral opening, occurs in approximately 1 out of 125 live births. Cryptorchidism, or undescended testes (UDT), is the most common GU birth defect, affecting around 3% of full-term infants. Despite high occurrence, the genetic origins of hypospadias, cryptorchidism, and similar GU defects are unknown. Methods: To investigate, we identified KCTD13 as a new candidate for lower GU anomalies. KCTD13 is a gene involved in the assembly of specific potassium channels, associated with GTPase binding activity and purine metabolism. Highly expressed during early development, KCTD13 is believed to contribute to neuronal migration, brain size regulation, and neurodevelopmental disorders like autism and schizophrenia. After characterizing KCTD13, we carefully examined how its expression affected other major GU proteins using histochemical stainings and blots. Our recent study made a novel association between KCTD13 and the androgen receptor (AR). Results: This study demonstrates that alterations in gene dosage of KCTD13 affect GU development by ubiquitination, or degradation, of nuclear AR. Conclusion: AR plays a crucial role in developing male reproductive organs, including the testes and external genitalia. This study aims to identify possible therapeutic targets involved in the KCTD13/AR pathway causing GU malformations. Grants: This study was partially funded by grants from the NIH.
The Role of KCTD13 in Androgen Receptor Ubiquitination
The Role of KCTD13 in Androgen Receptor Ubiquitination Faith Abraham1, Ahmed Chahdi, PhD2, Caroline Jorgez, PhD3, and Abhishek Seth, MD2 1Class of 2024, Dr. Kiran C. Patel College of Osteopathic Medicine, 2Urology, Nemours Children’s Hospital, Orlando, FL 3Urology, Baylor College of Medicine, Houston, TX Objective: This study was conducted to determine the effect of the KCTD13 gene on major protein effectors of common genitourinary (GU) defects. Background: Hypospadias, characterized by the ventral positioning of the urethral opening, occurs in approximately 1 out of 125 live births. Cryptorchidism, or undescended testes (UDT), is the most common GU birth defect, affecting around 3% of full-term infants. Despite high occurrence, the genetic origins of hypospadias, cryptorchidism, and similar GU defects are unknown. Methods: To investigate, we identified KCTD13 as a new candidate for lower GU anomalies. KCTD13 is a gene involved in the assembly of specific potassium channels, associated with GTPase binding activity and purine metabolism. Highly expressed during early development, KCTD13 is believed to contribute to neuronal migration, brain size regulation, and neurodevelopmental disorders like autism and schizophrenia. After characterizing KCTD13, we carefully examined how its expression affected other major GU proteins using histochemical stainings and blots. Our recent study made a novel association between KCTD13 and the androgen receptor (AR). Results: This study demonstrates that alterations in gene dosage of KCTD13 affect GU development by ubiquitination, or degradation, of nuclear AR. Conclusion: AR plays a crucial role in developing male reproductive organs, including the testes and external genitalia. This study aims to identify possible therapeutic targets involved in the KCTD13/AR pathway causing GU malformations. Grants: This study was partially funded by grants from the NIH.