New combo target may cut liver scarring in TSC

Credibility

Interest

Key Takeaway

Blocking a protein called KDM6A, together with existing mTORC1 drugs, may reduce scar-like collagen in the liver in a condition related to tuberous sclerosis complex (TSC).

What They Found

Researchers found that when cells lack TSC1 or TSC2 (genes changed in TSC), the liver shows more scar tissue (fibrosis) and cells start changing type in a process called EMT, which can make scarring worse. A protein named KDM6A was higher in these TSC models, and when the team lowered KDM6A levels, both fibrosis and the cell-type change were reduced. They showed KDM6A helps turn on a chain of signals (ERK → SNAI1) that tells cells to act in ways that make more collagen and scarring. The study also found KDM6A and the mTORC1 pathway boost each other in a feedback loop, so blocking one affects the other. Finally, using drugs that block both mTORC1 and KDM6A together gave a much stronger drop in liver scarring and lesions in the lab models than mTORC1 drug alone.

Who Should Care and Why

People with TSC and caregivers should care because liver fibrosis can cause long-term problems, and this study points to a new combo therapy that might help when current drugs don’t work fully. Think of the disease pathway like two friends encouraging bad behavior: mTORC1 and KDM6A push each other to make more scar tissue; stopping both friends could calm things down more than stopping just one. Patients who have signs of liver involvement or who don’t get enough benefit from mTORC1 inhibitors might especially benefit from future treatments based on this finding. Caregivers and doctors can watch for research and clinical trials testing KDM6A blockers combined with mTORC1 drugs as a possible new option. Even if you don’t have liver problems, this research matters because it shows how changing cell signals can affect tissue health, which could lead to better treatments for other scarring in TSC.

Important Considerations

This work was done in lab models (cells and animal models), not yet proven safe or effective in people, so clinical trials are needed before any new treatment is available. Lab results don’t always match human outcomes because human bodies are more complex; what helps in mice or cells might not work or could have side effects in people. Also, blocking KDM6A could affect other important cell functions, so doctors must carefully test safety, dosage, and long-term effects before recommending this approach.

Categories:

Early Research MS Genetics MS Progression

Article Topics:

KDM6Aepithelial–mesenchymal transitionfibrosishistone methylationtuberous sclerosis

Whether you’ve recently been diagnosed with Multiple Sclerosis (MS) or are seeking to broaden your understanding of this complex, neurodegenerative disease, navigating the latest research can feel overwhelming. Studies published in respected medical journals like Clinical genetics often range from early-stage, exploratory work to advanced clinical trials. These evidence-based findings help shape new disease-modifying therapies, guide symptom management techniques, and deepen our knowledge of MS progression.

However, not all research is created equal. Some clinical research studies may have smaller sample sizes, evolving methodologies, or limitations that warrant careful interpretation. For a more comprehensive, accurate understanding, we recommend reviewing the original source material—accessible via the More Details section above—and consulting with healthcare professionals who specialize in MS care.

By presenting a wide range of MS-focused studies—spanning cutting-edge treatments, emerging therapies, and established best practices—we aim to empower patients, caregivers, and clinicians to stay informed and make well-informed decisions when managing Multiple Sclerosis.

Back to News