Investigating how a specific gene affects mitochondrial function in individuals with Down syndrome
Official title: SIM2 Regulation of Mitochondrial Dysfunction in Down Syndrome
Funded at Texas A&m Agrilife Research · NIH-10654384 · Data updated 2026-11-12
This study is looking at how a gene called SIM2 affects energy production in cells for people with Down syndrome, which could help us find better ways to manage health issues like type 2 diabetes and obesity.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Texas A&m Agrilife Research NIH-funded |
| Lab location | 1 site (College Station, UNITED STATES) |
| Project start | September 13, 2023 |
| Project end | August 31, 2026 |
| Funding year | 2023 |
| Award (this year) | $1,960,246 |
| NIH project number | 1R01HD111848-01 |
| Project ID | NIH-10654384 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals with Down syndrome who may also be experiencing metabolic issues such as type 2 diabetes.
✕Less likely to help
Patients without Down syndrome or those not experiencing metabolic dysfunction may not benefit from this research.
What this research studies
This research focuses on understanding the role of the SIM2 gene in mitochondrial dysfunction associated with Down syndrome. Researchers will explore how SIM2 interacts with mitochondria to influence energy production and overall metabolism. By using cell lines and mouse models, the study aims to uncover the mechanisms behind mitochondrial impairment in individuals with Down syndrome, which could lead to better management of related health issues such as type 2 diabetes and obesity.
Why it matters
Potential benefit: If successful, this research could lead to new therapeutic strategies for improving metabolic health in individuals with Down syndrome.
How similar studies have gone: While mitochondrial dysfunction in Down syndrome is a recognized issue, the specific approach of targeting the SIM2 gene is relatively novel and has not been extensively tested in prior studies.
Where this research is happening
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Texas A&m Agrilife Research
College Station, United States Active
Researchers
- Principal investigator: Porter, Weston W — Texas A&m Agrilife Research
- Study coordinator: Porter, Weston W
Related research
Other NIH-funded projects on the same topics.
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Exploring how Down syndrome affects optic nerve health in kids
A study using a mouse model to understand why optic nerve problems are common in children with Down syndrome and how to prevent them.
-
Executive Function Enhancement for Young Children with Down Syndrome
A caregiver-guided program for kids with Down syndrome aged up to 11 to strengthen their thinking skills during early childhood.
-
Silencing an Extra Chromosome to Help Down Syndrome and Related Conditions
A patient-friendly plan to use a gene-based approach to quiet an extra chromosome in cells and a mouse model to reduce disease-related effects in Down syndrome and other chromosomal imbalance disorders.
-
Infant Down Syndrome Brain and Behavior Study
A study of infants with Down syndrome to collect brain imaging and developmental data, creating a large, shared resource to understand how autism and other factors relate to development.
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DS-ARC: Smartphone-based cognitive check for people with Down syndrome at risk for Alzheimer’s
A smartphone-based cognitive test is being developed and tested for people with Down syndrome who may develop Alzheimer’s disease, to track changes quietly in daily life.
-
Immune and NGF factors in Alzheimer’s for adults with Down syndrome
This grant studies why people with Down syndrome develop Alzheimer’s disease by looking at immune signals and nerve growth factor problems.
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.