Analysis of a novel parathyroid-related gene KANSL1-L complicated of polycystic kidney disease and male infertility

2019 Fiscal Year Final Research Report

• Project/Area Number: 16K09634
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Kidney internal medicine
• Research Institution: Kansai University of Health Sciences
• Principal Investigator: Kagiya Tomoko 関西医療大学, 保健医療学部, 助教 (50717650)
• Co-Investigator(Kenkyū-buntansha): 伊藤 俊治 関西医療大学, 保健医療学部, 准教授 (50275351) ; 畑村 育次 関西医療大学, 保健医療学部, 教授 (80336883)
• Project Period (FY): 2016-04-01 – 2020-03-31
• Keywords: 多発性嚢胞腎 / 男性不妊症 / Kansl1-L / 線毛

Outline of Final Research Achievements

KO mice lacking the Kansl1-L gene associated with hyperparathyroidism were male infertile, became polycystic kidney with age. We investigated how Kansl1-L is involved in cystic kidney formation. Dilation of the tubules, source of cysts, was observed in both males and females from the age of 2 weeks old. The number of dilated tubules increased with aging, but only in males, multiple cysts and enlargement were seen. Polycystic kidney disease occurred in about half of KO males. Kansl1-L was shown to be a causative gene of a pathway different from Pkd1 and Pkd2, suggesting a relationship with cilia.

Free Research Field

実験病理学

Academic Significance and Societal Importance of the Research Achievements

Kansl1-L欠損多発性嚢胞腎は老齢になって初めて発症すると思われたが、嚢胞のきっかけである尿細管の拡張は生後2週齢からみられた。さらに老年60週齢ころの嚢胞の大型化と多発は雄だけにみられ、この嚢胞腎は雌雄差のある疾患であることがわかった。Kansl1-Lは今までにみつかっていない、発症に性差がある多発性嚢胞腎の原因遺伝子であり、雄性不妊を合併する遺伝性疾患の原因遺伝子の可能性がある。