Genetic Variants Tied To Kidney Disease in African Americans

MedicalResearch.com Interview with:

Katalin Susztak MD, PhD Associate Professor of Medicine Perelman School of Medicine University of Pennsylvania Philadelphia, PA 19104

Dr. Susztak

Katalin Susztak MD, PhD
Associate Professor of Medicine
Perelman School of Medicine
University of Pennsylvania
Philadelphia, PA 19104

MedicalResearch.com: What is the background for this study? What are the main findings?

Response: Previous studies showed an association between genetic variants in the APOL1 gene and kidney disease development, but it has not been confidently shown that this genetic variant is actually causal for kidney disease. For this reason we developed a mouse model that recapitulates the human phenotype.

MedicalResearch.com: What should readers take away from your report?

Response: G1 and G2 genetic variants that are present in African Americans are disease causing mutations.

MedicalResearch.com: What recommendations do you have for future research as a result of this study?

Response: We developed a mouse model that recapitulates features of the human disease condition. The work has also identified the mechanism of disease development. Overall the study should enable therapeutics development.

MedicalResearch.com: Thank you for your contribution to the MedicalResearch.com community.

Citation:

Pazit Beckerman, Jing Bi-Karchin, Ae Seo Deok Park, Chengxiang Qiu, Patrick D Dummer, Irfana Soomro, Carine M Boustany-Kari, Steven S Pullen, Jeffrey H Miner, Chien-An A Hu, Tibor Rohacs, Kazunori Inoue, Shuta Ishibe, Moin A Saleem, Matthew B Palmer, Ana Maria Cuervo, Jeffrey B Kopp, Katalin Susztak. Transgenic expression of human APOL1 risk variants in podocytes induces kidney disease in mice. Nature Medicine, 2017; DOI: 10.1038/nm.4287

Note: Content is Not intended as medical advice. Please consult your health care provider regarding your specific medical condition and questions.

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