SIM2 and mitochondrial health in Down syndrome
Official title: SIM2 Regulation of Mitochondrial Dysfunction in Down Syndrome
Funded at Texas A&m Agrilife Research · NIH-11557025 · Data updated 2026-11-12
A study tests how a gene linked to Down syndrome affects mitochondria and energy use, with the aim of guiding future therapies for people with Down syndrome and related conditions.
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, 2028 |
| Funding year | 2026 |
| Award (this year) | $668,020 |
| NIH project number | 4R01HD111848-02 |
| Project ID | NIH-11557025 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates are individuals with Down syndrome or cells/samples derived from them, and those who could participate in future translational studies or trials.
✕Less likely to help
People without Down syndrome or without a link to mitochondrial dysfunction in this context may see limited relevance.
What this research studies
This project looks at how SIM2, a gene on chromosome 21, influences mitochondrial function in people with Down syndrome. Researchers will use cell lines and mouse models to explore how SIM2 interacts with mitochondria and alters respiration and energy production. The goal is to uncover mechanisms that drive mitochondrial problems seen in Down syndrome and identify potential points for intervention that could help reduce related health issues. The research is designed to build a foundation for future therapies that could improve quality of life for individuals with Down syndrome and associated conditions.
Why it matters
Potential benefit: If successful, the work could lead to targeted strategies to improve cellular energy and reduce complications in Down syndrome.
How similar studies have gone: Previous work has linked mitochondrial dysfunction to Down syndrome, and this project extends that line of investigation with a focus on SIM2.
Where this research is happening
-
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.