Investigating how mitochondrial dysfunction affects autism spectrum disorder-related genes and brain function
Official title: Resolving the relationship between mitochondrial dysfunction and the impact of non-syndromic autism spectrum disorder-related risk genes on neuronal structure and function
Funded at Icahn School of Medicine at Mount Sinai · NIH-10786441 · Data updated 2026-11-12
This study is looking at how certain genetic changes related to autism might affect brain cells and their connections, using special lab techniques to create and observe brain-like structures, so we can learn more about what happens in autism.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Icahn School of Medicine at Mount Sinai NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project start | April 10, 2025 |
| Project end | March 31, 2027 |
| Funding year | 2025 |
| Award (this year) | $253,500 |
| NIH project number | 1R21HD113986-01 |
| Project ID | NIH-10786441 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals diagnosed with non-syndromic autism spectrum disorder, particularly those with genetic variants in the PPP2R5D, SHANK3, or GRIN2B genes.
✕Less likely to help
Patients without a diagnosis of autism spectrum disorder or those not carrying the relevant genetic variants may not benefit from this research.
What this research studies
This research explores the connection between mitochondrial dysfunction and autism spectrum disorder (ASD) by examining how specific genetic variants impact neuronal structure and function. The study employs innovative techniques, including the creation of induced pluripotent stem cells (iPSCs) with genetic modifications to mimic ASD-related conditions. Researchers will analyze the development of neurons and synaptic connections using advanced imaging methods and 3D brain organoids to better understand the underlying mechanisms of ASD.
Why it matters
Potential benefit: If successful, this research could lead to new insights into the biological mechanisms of autism, potentially informing targeted therapies and interventions.
How similar studies have gone: While the specific 'two-hit' hypothesis is novel, previous research has shown promising results in understanding the genetic and bioenergetic factors contributing to autism.
Where this research is happening
-
Icahn School of Medicine at Mount Sinai
New York, United States Active
Researchers
- Principal investigator: Kozicz, Laszlo Tamas — Icahn School of Medicine at Mount Sinai
- Study coordinator: Kozicz, Laszlo Tamas
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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.