Researchers Created Mini-Kidneys to Identify Tuberous Sclerosis Complex and Solve a Medical Mystery

Tuberous sclerosis complex (TSC) is classified as a rare genetic disorder that causes typically benign tumors in the brain, skin, heart, kidneys, or lungs. As described in a recent article at News Medical, TSC affects both children and adults, and may be either mild or life-threatening. Symptoms include seizures and kidney disorders. As of this writing, only limited treatment is available and there is no cure.

Medical Mystery Solved

According to the article, researchers at the Ottawa Hospital in Canada have now identified which cells cause tumors in TSC patients. The help study this, the team created kidney organoids that they called “mini-kidneys,” grown from human tissue.

Ottawa University professor and senior scientist Bill Stanford, M.D. explained that cells originating from tuberous sclerosis tumors have evaded discovery for many years. The results of their study will now help to discover potential treatment targets for the disease.

Dr. Stanford further explained that approximately 60 to 80 percent of TSC patients will eventually experience tumors that not only reduce normal kidney function, but may also lead to fatal bleeding.

The doctor commented that necessity motivated the researchers to create their own lab model. It is standard procedure to use animals in a study, but in the case of TSC, no animal models were available. The researchers were attempting to show the impact that TSC had on the kidneys. The results of this study may indicate that problem has now been solved.

About the Cause of TSC

According to the article, mutations in the TSC1 and TSC2 genes were found to cause the disease. Contrary to most inherited diseases that can be traced through family history, the TSC mutations occur spontaneously either at development or in the early stages of life.

Experts acknowledge that there are several other factors that make treatment a challenge. There has been no explanation for the tumors’ huge diversity in cellular makeup, size, and gene expression (information encoded in a gene).

Creating Organoids (3D Cell Structures)

The article explains that the research team used human stem cells genetically engineered with the TSC1 and TSC2 mutations to create miniature versions of kidneys (organoids). The genetic profiles matched the tumors found in TSC patients. Cells from the organoids were then injected into the kidneys of the mouse models, where they became human TSC tumors.

The organoids were helpful in identifying the origin of TSC tumors in the kidney. The team found that this mutation can affect many types of cells, thereby explaining why there are so many different forms of kidney tumors associated with TSC.

The researchers noted that the ‘mini-kidneys’ have the potential to test new therapies and increase the understanding of the disease.

Read more about this study at News Medical.


Rose Duesterwald

Rose Duesterwald

Rose became acquainted with Patient Worthy after her husband was diagnosed with Acute Myeloid Leukemia (AML) six years ago. During this period of partial remission, Rose researched investigational drugs to be prepared in the event of a relapse. Her husband died February 12, 2021 with a rare and unexplained occurrence of liver cancer possibly unrelated to AML.

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