Shekhar Singh: Understanding EPM1 and CSTB: Unraveling the Mysteries of a Rare Disorder
Our research delves into EPM1, also known as Unverricht–Lundborg disease, which is a rare form of epilepsy characterized by seizures, progressive myoclonus, and neurological deterioration. It is caused due to the mutation in CSTB, the cystatin B gene. CSTB encodes cystatin B, a protein involved in regulating protease activity within cells. Mutations in CSTB lead to dysfunctional cystatin B, contributing to the neurological symptoms observed in EPM1 patients.
Our investigation focuses on unraveling the intricate mechanisms underlying this condition, particularly the role of CSTB. Through comprehensive genetic and molecular analyses, we aim to elucidate how these mutations disrupt cellular processes and precipitate disease progression.
Our study aims to shed light on the mechanisms underlying EPM1, focusing particularly on how CSTB mutations disrupt cellular functions, leading to the onset and progression of the disease. By employing cutting-edge molecular biology techniques and bioinformatics analyses, we hope to unravel the intricate pathways involved, offering potential targets for therapeutic intervention.
Understanding the intricacies of EPM1 and CSTB not only provides insight into this specific disorder but also offers valuable lessons for understanding epilepsy and neurodegenerative diseases more broadly. Through collaborative efforts and relentless exploration, we aspire to pave the way for more effective treatments and, ultimately, improved quality of life for those affected by EPM1 and related conditions.
For more information please check out our latest review article – Cells | Free Full-Text | The Roles of Cystatin B in the Brain and Pathophysiological Mechanisms of Progressive Myoclonic Epilepsy Type 1 (mdpi.com)
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Shekhar Singh works as a doctoral researcher in the Neuro-Innovation PhD Programme. His research focuses on epilepsy in patients with CSTB mutation. Read more about Shekhar’s journey here.