The study found four genes involved in cysts in the liver and kidneys

Yale scientists are studying kidney and liver disease to determine which genes are involved in cyst formation.

To diagnose the same as finding a way to treat genetic disorders that cause liver and kidney cysts , scientists must determine which genes cause the disease. This is a genetic disease called polycystic kidney disease (PKD) that often causes cysts in the liver or even in the kidneys.

These cysts are fluid bags, which grow crowded in the liver or kidneys, and in the long term it is easy to cause that organ to lead to failure and ultimately to die.

In particular, 2 genes are different from PKD1 or PKD2 . In which parents containing one of these two genes can inherit to another, a similar variant gene called PKHD1 and this gene is usually rarer.

Not only that, but Dr. Stefan Somlo's lab at Yale found that this polycystic tumor can only appear in liver cysts and does not appear in kidney cysts, thus The disease will not develop early kidney failure . People with liver cysts (PCLD), if benign, are easier to treat than kidney cysts.

However, the mechanism for forming cysts in the liver or kidney is almost the same. To further investigate this issue, the team examined genes found in patients with liver cysts.

The results showed that, through the patient's gene sequence and computer analysis, the team identified four new genes involved in causing PLCD liver cysts , suggesting that there are quite a few The gene causes other specific types of cysts that the main gene is PKHD1.

This finding again provides important antecedents in the pathogenesis mechanism between people with kidney cysts and liver cysts, especially those who carry the genetic variant from infected parents. Researcher Whitney Besse, a clinical specialist in medicine, hopes that by improving the understanding of genes involved in cyst formation, scientists will soon develop a method. Treatment of liver and kidney cysts effectively. There is a theory that blocking and eliminating these genes may open a new path of treatment for patients. Besse said.

Now Besse and his colleagues plan to study more of these diseases and find out the interactions of the genes found with potential cysts.

This study has just been published in the Journal of Clinical Investigation.