Qinglan Ling
University of Massachusetts Chan Medical School, MA·Genetics·Early-career
Mitochondria, the cell's power plants, carry their own small genome. Mutations in one of its genes, MTATP6, block the cell's production of ATP, its energy currency, and cause several neurological diseases that have no approved treatment.
- Fields
Genetics
Medicine & Clinical Research
Neuroscience
- Topics
mitochondrial disease
ATP synthase
mitochondrial DNA
- Grants
- 1 known grant, through Jun 2027
What they work on
- 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.
- Build AAV vectors that express MTATP6 from the nucleus and send the ATP6 protein to mitochondria, testing them in patient-derived cells with truncating or m.8993T>G mutations.
- Characterize the truncated MTATP6 mouse model and evaluate the safety and effectiveness of AAV-delivered allotopic MTATP6 gene therapy in living mice.
More about the research
Gene therapy is a promising option, but two obstacles stand in the way. No current vector, or gene-delivery vehicle, can put genes directly into mitochondria, and no mouse model of MTATP6 disease exists to test treatments.
Why it matters
Patients with neurological mitochondrial diseases caused by MTATP6 mutations currently have no approved treatment. A first mouse model and an AAV-based gene therapy could set a path toward clinical studies for patients with truncating mutations and lay groundwork for treating other MTATP6 variants.
Known grants
From NIH and NSF research grants. Labs often have other funding we can't see.
Closest labs
Christina Pacak
University of Minnesota, MN·Genetics
Optimize the capsid, or virus shell, and the promoter, the DNA switch controlling gene activity, of an AAV vector that delivers the ERCC5 (XPG) gene to improve treatment in Xpg-/- mice.
Emanuele Barca
Columbia University, NY·Medicine & Clinical Research·Early-career
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.
Renzhi Han
Indiana University-Purdue University-Indianapolis, IN·Pharmacology
Develop an improved triple-vector system in next-generation myotropic adeno-associated virus capsids to reconstitute full-length dystrophin by protein trans-splicing across skeletal, diaphragm, and heart muscle in models of Duchenne muscular dystrophy.
The school
University of Massachusetts Chan Medical School: 29 labs on PI Pages, $350M a year on research, 55 research doctorates a year.
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