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Exploring the Role of 'Jumping Genes' in X-Linked Dystonia-Parkinsonism

Vivien Horvath in the lab. Photo.
Postdoctoral researcher Vivien Horvath investigates X-Linked Dystonia-Parkinsonism (XDP), a rare neurodegenerative disorder.

New research is underway at Lund University, led by Dr. Vivien Horvath, a postdoctoral researcher at Lund Stem Cell Center. Supported by a new grant from the Collaborative Center for X-Linked Dystonia-Parkinsonism (XDP), Vivien aims to improve our understanding of XDP, a rare neurodegenerative disorder caused by the recent insertion of a transposable element.

Transposable elements, also known as 'jumping genes,' make up about half of the human genome. They are mobile DNA sequences, which can 'jump' from one location to another in the genome by inserting copies at various genomic sites within the same or a different chromosome. Among others, they can act as gene regulators, altering the expression of important genes.

"My interest in transposable elements and their role in organisms' adaptation to diverse environments developed during my time as a Ph.D. student," explains Vivien Horvath. "Over time, I realized that I wanted to apply my knowledge of transposable elements to better understand human health and disease."

Originally from Hungary, Vivien Horvath brings a diverse academic background and a long-standing love for science to her current position. Drawn by the opportunity to delve deeper into transposable elements with a focus on human biology, Vivien joined the Jakobsson Research Group as a postdoctoral research fellow in 2020. The Jakobsson Research Group focuses on how transposable elements affect gene regulation in the healthy and diseased brain.

Several years ago, the group initiated a study on XDP, setting the stage for today's research.

Unraveling the Genetic Puzzle of XDP

XDP is an adult-onset, genetic movement disorder most prevalent among the Illongo people of the Philippines. It is a neurodegenerative disease that develops over many years and can result in physical disability and a shortened life span.

In the initial phase of the project, the team focused on a specific transposable element thought to be responsible for causing XDP. They studied how it affects the TAF1 gene, where it is inserted. Now, their investigation has shifted towards analyzing brain tissue samples obtained from both patients with XDP and healthy individuals. 

"One of our main challenges is determining which types of neural cells in the brain are affected by XDP," highlights Vivien Horvath. “If we can identify the exact cells affected by the disease, we can gain new insights for targeted investigations and potential therapeutic strategies for XDP and similar diseases."

By analyzing differences in neural cell types and assessing the effects on gene expression, researchers in the Jakobsson Group hope to pinpoint the specific cells affected by XDP and focus their investigations accordingly.

Patient-Specific Approaches to Understanding XDP

"Existing models either rely on animal models or cell models that lose the crucial epigenetic program of the cell," notes Vivien. "What's fascinating is that we've already discovered that epigenetics plays a crucial role in XDP, highlighting the need for a model that accurately represents the disease and preserves its epigenetic markers."

To tackle this challenge, Vivien will lead a project involving the direct reprogramming of patient dermal fibroblasts, or skin cells, into mature neurons. This novel reprogramming method, developed by researchers from the Lund Stem Cell Center, ensures the preservation of important epigenetic patterns within the cells.

By developing this model, we can gain a better understanding of XDP, its complexities and how it develops. Not only that, but this new model could also enable researchers to test new drugs and therapies using methods specific to each patient, leading to more personalized treatments in the future,” concludes Vivien Horvath.

About the XDP Project:

The research projects outlined in this article are part of a larger consortium associated with the Collaborative Center for X-Linked Dystonia-Parkinsonism in Boston, USA.

Two grants have been awarded to Vivien Horvath (postdoctoral fellowship grant) and Johan Jakobsson (research grant) by the Center for X-Linked Dystonia-Parkinsonism that will enable their research into the mechanisms of XDP over the next two years.