Emanuele Barca
Columbia University, NY·Medicine & Clinical Research·Early-career
Leigh syndrome is the most common mitochondrial disease of childhood. It causes severe neurological decline, often set off by metabolic stresses, and has no targeted therapy.
- Fields
Medicine & Clinical Research
Biochemistry
Physiology
- Topics
Leigh syndrome
mitochondrial disease
ATP synthase
- Grants
- 1 known grant, through Jun 2030
What they work on
- Determine how defects in ATP synthase dimerization alter the shape of the inner mitochondrial membrane and disrupt the proton gradient, leading to ATP synthesis failure, using patient fibroblasts and knockout cell lines.
- Test the hypothesis that ATP synthase dimers let mitochondria match energy output to demand, by combining biochemistry with real-time imaging of cells under metabolic stresses like those seen in Leigh syndrome.
- Explore whether increasing ATP synthase dimerization through genetic overexpression improves energy production in cells with dimerization defects.
More about the research
Many different gene defects cause it, but most lead to the same result: cells fail to make enough energy. This project focuses on ATP synthase, the rotating enzyme in mitochondria that uses a flow of protons (hydrogen ions) to make ATP, the cell's energy currency. ATP synthase normally pairs up into dimers.
Why it matters
Children with Leigh syndrome and other mitochondrial diseases have few treatment options. Showing that more ATP synthase dimers can improve energy production could provide early evidence for a new treatment strategy. That strategy could apply across a range of energy metabolism disorders, not only those caused by USMG5 variants.
Known grants
From NIH and NSF research grants. Labs often have other funding we can't see.
Closest labs
Qinglan Ling
University of Massachusetts Chan Medical School, MA·Genetics·Early-career
Develop and optimize a mitochondria-targeting base editor, a tool that changes single DNA letters, to create a truncating mutation in the mouse MTATP6 gene and generate a conditional mouse model.
Evgeny Pavlov
New York University, NY·Biochemistry
Identify which molecular mechanisms of mitochondrial permeability transition operate under specific stress conditions, such as calcium and reactive oxygen species imbalance, using the lab's animal and cell disease models.
Jonathan Friedman
University of Texas Southwestern Medical Center, TX·Biology
Determine how structural changes are coordinated across the two mitochondrial membranes during mitochondrial fission, the process by which these organelles divide.
The school
Columbia University: 89 labs on PI Pages, $1.4B a year on research, 625 research doctorates a year.
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