New Genetic Insights: CACNA1H’s Role in Pheochromocytoma
By: Tobias Carling; Fredrika Svahn; Karolina Solhusløkk Höse; Adam Stenman; Yaxuan Liu; Jan Calissendorff; Emma Tham; Ákos Végvári; Roman A Zubarev; Na Wang; Reju Korah; Jan Zedenius; Robert Bränström; C. Christofer Juhlin; Catharina Larsson
Pheochromocytomas are rare tumors of the adrenal gland that can cause dangerous spikes in blood pressure, anxiety, and other life-threatening symptoms. For years, scientists have known that genetics plays a major role in how these tumors form, but the complete picture has remained unclear.
In a recent study published in Endocrine-Related Cancer, researchers including Dr. Tobias Carling analyzed genetic data from pheochromocytoma patients across multiple large datasets. They discovered that some patients carried rare mutations in a gene called CACNA1H, which encodes a calcium channel important for how cells send signals.
Even in patients without mutations, pheochromocytoma tumors showed a consistent down-regulation of CACNA1H, meaning the gene was much less active than in normal adrenal tissue. This pattern suggests that CACNA1H may be an important player in tumor development — either as a driver mutation in some patients, or as part of a disrupted signaling pathway in others.
Why does this matter for patients? Every new genetic discovery helps refine the roadmap for earlier diagnosis, risk prediction, and potentially targeted therapies. By linking CACNA1H to pheochromocytoma, this research provides another crucial piece in understanding — and ultimately treating — these rare but dangerous adrenal tumors.
