Understanding Gene Changes in Alzheimer's and Related Dementias
Pathological Signatures of CHCHD10 Dysfunction in ADRDs
This work looks at how changes in a specific gene called CHCHD10 contribute to conditions like Alzheimer's disease, Frontotemporal Dementia, and ALS.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Case Western Reserve University NIH-funded |
| Lab location | 1 site (Cleveland, United States) |
| Project ID | NIH-11115635 on NIH RePORTER |
What this research studies
This research explores how specific changes in a gene called CHCHD10 may lead to conditions like Frontotemporal Dementia (FTD), Amyotrophic Lateral Sclerosis (ALS), and related dementias. We know these gene changes can cause problems with a protein inside the cell's powerhouses, called mitochondria. By carefully examining both specially developed mouse models and human brain tissues from patients, scientists aim to discover the unique brain changes that occur due to these genetic mutations. This work will help us better understand how these gene alterations contribute to the development and progression of these challenging diseases.
Who could benefit from this research
Good fit: This research focuses on individuals affected by Frontotemporal Dementia (FTD), Amyotrophic Lateral Sclerosis (ALS), Alzheimer's disease, and other related dementias, especially those with known or suspected CHCHD10 gene mutations.
Not a fit: Patients whose conditions are not linked to CHCHD10 gene changes or related dementias may not directly benefit from this specific research.
Why it matters
Potential benefit: If successful, this work could lead to a deeper understanding of how these diseases develop, paving the way for new ways to diagnose or treat them.
How similar studies have performed: While mouse models have shown promise in mimicking aspects of these diseases, understanding the full pathological signatures in human tissue is a novel and ongoing area of discovery.
Where this research is happening
Cleveland, United States
- Case Western Reserve University — Cleveland, United States (Active)
Researchers
- Principal investigator: Kang, David E — Case Western Reserve University
- Study coordinator: Kang, David E
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.