Wan Hee Yoon, PhD

  • Research Program: Geroscience
  • Position: Pathology, Assistant Member

Biography

"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 the 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 by genetic mutations may contribute to human pathologies, and, ultimately, to find treatments for those diseases.
To do this, we use common fruit flies called Drosophila and iPS cells 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. In addition, we generated numerous iPS cells from patients’ cells carrying mutations in mitochondrial genes. By studying how their mitochondrial dysfunction and mutations contribute to defects in flies and neuronal cells derived from the iPS cells, we can obtain understanding of the root causes for human diseases."

Email

wanhee-yoon@omrf.org

Publications

Health Education
  • Graduate School
  • Postdoctoral training, Drosophila and Human Genetics Howard Hughes Medical Institute, Baylor College of Medicine
  • PhD, Drosophila Genetics, Developmental Biology Johns Hopkins University School of Medicine
  • Undergraduate School
  • B.S. Biology Yonsei University, Seoul, South Korea
Research Interests:
  • Mendelian mitochondria diseases
  • Neurodevelopment disorders
  • Alpha-ketoglutarate deficiency
  • Harel-Yoon syndrome
  • Neuronal stem cells
Publications
  • Functional interpretation of ATAD3A variants in neuromitochondrial phenotypes 2021
  • A biallelic pathogenic variant in the OGDH gene results in a neurological disorder with features of a mitochondria disease 2020
  • Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism 2020
  • Bi-allelic Mutations in ATP5F1D, a Subunit of ATP Synthase, Cause a Metabolic Disorder 2018
  • Loss of Nardilysin, a mitochondrial co-chaperone for a-Ketoglutarate Dehydrogenase, promotes mTORC1 activation and neurodegeneration 2017
  • Recurrent de novo and biallelic variation of ATAD3A, encoding a mitochondrial membrane protein, results in distinct neurological syndromes 2016
  • Neuronal overexpression of human VAPB slows motor impairment and neuromuscular denervation in a mouse model of ALS 2016
  • Drosophila motor neurons regulates presynaptic resting Ca2+ levels, synapse growth, and synaptic transmission 2014
  • Mitocentric view of Parkinson's disease 2014
  • Group choreography: mechanisms orchestrating the collective movement of border cells 2012
  • miRNA-mediated feedback inhibition of JAK/STAT morphogen signalling establishes a cell fate threshold 2011