- Autosomal dominant polycystic kidney disease (ADPKD) is an inherited life-threatening condition that involves the formation of cysts in the kidney and impairment of kidney function.
- More than three in four cases of ADPKD cases are caused by a mutation in the PKD-1 gene that encodes the polycystin-1 (PC1) protein.
- The PC1 protein is cleaved to form fragments of different sizes, including a fragment called the C-terminal tail (PC1-CTT) fragment.
- A recent study using a mouse ADPKD model showed that the PC1-CTT fragment could ameliorate the development of cysts in the kidney and help preserve kidney function.
Autosomal dominant polycystic kidney disease (
ADPKD is characterized by the development of cysts in the kidney and a decline in kidney function. Mutations affecting the PC1 protein, which is encoded by the PKD-1 gene, are responsible for the most prevalent form of ADPKD.
Although the expression of the non-mutated PC1 protein can revert ADPKD in animal models, the length of the PKD-1 gene has been an obstacle to its use in gene therapy.
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The study also revealed how the CTT fragment could help to reverse ADPKD.
“Our research shows that a tiny fragment of the PC1 protein — just 200 amino acids from the very tail end of that protein — is enough to suppress the disease in a mouse model,” Dr. Michael Caplan, a professor at Yale University and a study co-author, said in a press statement. “Our work will provide new insights into the underlying disease mechanisms for polycystic kidney disease and reveal new…
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