In a joint international study, researchers from Osaka University have partnered with research groups from the United States and Spain to uncover how mutations in a single gene called PKHD1 lead to symptoms associated with a rare kidney and liver disease, ARPKD (autosomal recessive polycystic kidney disease). The findings are expected to lead to novel treatment strategies against the disease.
In a joint international study, researchers from Osaka University have partnered with research groups from the United States and Spain to uncover how mutations in a single gene called PKHD1 lead to symptoms associated with a rare kidney and liver disease, ARPKD (autosomal recessive polycystic kidney disease). The findings are expected to lead to novel treatment strategies against the disease.
ARPKD is a rare disease affecting 1 in 20000 people, but its victims are newborns, many of whom fail to see their first birthday. As for those who do survive, they often suffer from a litany of ailments including hypertension, cyst formation, and tissue scarring. Treatments normally target the symptoms of the disease because the underlying molecular causes are poorly understood.
ARPKD is caused by a mutation in the PKHD1 gene. To identify key candidate molecules that contribute to the disease, Osaka University Associate Professor Jun-Ya Kaimori and his colleagues compared cells from Pkhd1 mutant and normal mice, finding that the different expression levels of the Pkhd1 gene correlated with cell shape and cyst formation.
“PKDH1 encodes for fibrocystin/polyductin complex (FPC). The altered cell morphologies depended on the level of RhoA,” explains Kaimori.
Read more at Osaka University
Image: This is a visualization of findings. (Credit: Osaka University)
