Neurodegenerative and neurodevelopmental diseases affect millions of people around the globe. Scientists have thought many of these diseases may result from disruptions or failures in the mitochondria, a specialized cellular structure often referred to as the “powerhouse of the cell.”
Mitochondria play a key role in metabolism in cells. Metabolism is a series of biochemical reactions essential for all living organisms. It provides energy and the building blocks for healthy cells. As we age, we lose some of these capabilities of mitochondria, and the quality of our cells declines. This has been implicated in many diseases, including neurodegenerative diseases like Alzheimer’s and Parkinson’s and even cancer.
Our long-term goal is to learn how cells maintain mitochondrial structure and metabolism, how failures in that system may contribute to human pathologies and, ultimately, to find treatments for those diseases.
To do this, we use common fruit flies called Drosophila as a disease model. Because fruit flies share approximately 75 percent of a human’s disease genes, they are near-perfect tools for studying conditions that afflict people. We “humanize” these flies by using state-of-the-art gene editing tools. By studying how their mitochondrial dysfunction contributes to defects in flies, we can get hints into the root causes for human diseases.
My lab also focuses on identifying novel and previously unknown human diseases using the newest technologies in Drosophila. In collaboration with human geneticists, I discovered mitochondrial genes whose mutations cause neuronal and metabolic dysfunction in both flies and humans. This work shows that fruit flies serve as an excellent model system for discovering novel disease genes from human patient data. Using these tiny flies, we can continue to identify new human diseases, perform disease modeling in flies, and understand the mechanisms of their pathogenesis.
B.Sc., Yonsei University, South Korea, 1997
M. Sc., Yonsei University, South Korea, 1999
Ph.D., Johns Hopkins University School of Medicine, 2011
2016-2017 Assistant Professor, Department of Molecular and Human Genetics, Baylor College of Medicine
2011-2016 Postdoctoral Research Fellow, Howard Hughes Medical Institute, Department of Molecular and Human Genetics, Baylor College of Medicine Principal Investigator: Hugo J. Bellen, D.V.M., Ph.D.
1999-2004 Senior Research Scientist, Central Research Institute, Choongwae Pharmaceutical Company, South Korea
2001 Visiting Research Scientist, Pacific Northwest Diabetes Research Institute, Seattle. Principal Investigator: Michael Kahn, Ph.D.
Honors and Awards
2004 Korea Science and Engineering Foundation Fellowship
2005 H.A. and Mary K. Chapman Young Investigator Fellowship
2015 Best Oral Presentation Award, 14th Korean-American Biomedical Scientists Symposium
2016 Oral Presentation Award, 15th Korean-American Biomedical Scientists Symposium
2017 Best Postdoctoral Publication Award, Department of Molecular and Human Genetics, Baylor College of Medicine
Joined OMRF Scientific Staff in 2017
Oláhová M*, Yoon WH*, Thompson K*, Jangam S, Fernandez-Betancourt, EL , Davidson JM, Kyle JE, Grove ME, Fisk DG, Kohler J, Holmes M, Dries AM, Huang Y, Zhao C, Contrepois K, Zappala Z, Frésard L, Waggott D, Zink EM, Kim YM, Heyman HM, Stratton KG, Webb-Robertson BM, Undiagnosed Diseases Network, Snyder M, Merker JD, Montgomery SB, Fisher PG, Feichtinger RG, Mayr JA, Hall J, Barbosa IA, Simpson MA, Deshpande C, Waters KM, Koeller D, Metz TO, Morris AA, McFarland R, Schelley S, Van Hove JLK, Enns GM, Yamamoto S, Ashley EA, Wangler MF, Taylor RW, Bellen HJ, Bernstein JA, Wheeler MT. Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. Am J Hum Genet 102:494-504, 2018 Mar, PMID: 29478781, PMCID: PMC6117612
Yoon WH, Sandoval H, Nagarkar-Jaiswal S, et al. Loss of Nardilysin, a mitochondrial co-chaperone for α-Ketoglutarate dehydrogenase, promotes mTORC1 activation and neurodegeneration. Neuron 93:115-131, 2017 Jan, PMID: 28017472, PMCID: PMC5242142
Harel T, Yoon WH, Garone C, et al. Recurrent de novo and biallelic variation of ATAD3A, encoding a mitochondrial membrane protein, results in distinct neurological syndromes. Am J Hum Genet 99:831-845, 2016 Oct, PMID: 27640307, PMCID: PMC5065660
Montell DJ, Yoon WH, Starz-Gaiano M. Group choreography: mechanisms orchestrating the collective movement of border cells. Nat Rev Mol Cell Biol. 2012 Oct;13(10):631-45. PMID: 23000794 PMCID: PMC4099007
Yoon WH, Meinhardt H, Montell DJ. miRNA-mediated feedback inhibition of JAK/STAT morphogen signalling establishes a cell fate threshold. Nat Cell Biol. 2011 Aug 21;13(9):1062-9. PMID: 21857668 PMCID: PMC3167036
Functional & Chemical Genomics Research Program, MS 46
Oklahoma Medical Research Foundation
825 N.E. 13th Street
Oklahoma City, OK 73104
Phone: (405) 271-1574
Fax: (405) 271-3765
Patricia Goncalves Barbalho, Ph.D.
Jae Sun Kang
Yo Han Park
Research Trainee (Polish Student Exchange Program)