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Chan, Sherine

One or more keywords matched the following properties of Chan, Sherine

Property	Value
keywords	mitochondrial DNA
overview	Our mission is to understand how mitochondrial defects give rise to cellular dysfunction and disease. This is not an easy task, as the mitochondrion performs many essential functions, the most important being the production of most of the energy for the cell. Defects in any of the approximately 1,500 mitochondrial proteins can lead to pathological states such as neurodegeneration and cancer. In addition to genetic defects, mitochondrial dysfunction can arise from contact with many environmental agents and drug treatments. Mitochondria contain multiple copies of their own small, circular genome (mitochondrial DNA, mtDNA). Recently, investigators reported that 1 in 5 healthy humans harbor a pathogenic mtDNA mutation. Further complicating the understanding of mitochondrial diseases are issues related to mtDNA copy number in different tissues and different cellular states, levels of mtDNA mutations within cells (known as heteroplasmy), tissue differences in mitochondrial needs, and wide variability in disease presentation and onset of disease despite the same disease mutation. We use several diverse in vitro and in vivo methods to analyze mitochondrial dysfunction. In particular, we are using the zebrafish as a model for mitochondrial diseases. The zebrafish (Danio rerio) is an important vertebrate model organism, offering many advantages for understanding basic biological processes. Breeding pairs can produce hundreds of embryos that develop outside of the mother and are frequently used in high-throughput drug screens. The use of zebrafish embryos and larvae for environmental agent testing is also well established. Furthermore, zebrafish embryos can be genetically manipulated, and because these embryos are transparent, development can be monitored and phenotypic changes can be scored easily. There are no cures or effective long-term treatments for mitochondrial diseases. To fulfill our long-term goals of developing therapeutic treatments and new biomarkers for the early detection of mitochondrial disease, we are investigating pathways that are important in the development of mitochondrial disease, and the role of environmental and drug modifiers on mitochondrial function.

Property

Value

keywords

mitochondrial DNA

overview

Our mission is to understand how mitochondrial defects give rise to cellular dysfunction and disease. This is not an easy task, as the mitochondrion performs many essential functions, the most important being the production of most of the energy for the cell. Defects in any of the approximately 1,500 mitochondrial proteins can lead to pathological states such as neurodegeneration and cancer. In addition to genetic defects, mitochondrial dysfunction can arise from contact with many environmental agents and drug treatments. Mitochondria contain multiple copies of their own small, circular genome (mitochondrial DNA, mtDNA). Recently, investigators reported that 1 in 5 healthy humans harbor a pathogenic mtDNA mutation. Further complicating the understanding of mitochondrial diseases are issues related to mtDNA copy number in different tissues and different cellular states, levels of mtDNA mutations within cells (known as heteroplasmy), tissue differences in mitochondrial needs, and wide variability in disease presentation and onset of disease despite the same disease mutation. We use several diverse in vitro and in vivo methods to analyze mitochondrial dysfunction. In particular, we are using the zebrafish as a model for mitochondrial diseases. The zebrafish (Danio rerio) is an important vertebrate model organism, offering many advantages for understanding basic biological processes. Breeding pairs can produce hundreds of embryos that develop outside of the mother and are frequently used in high-throughput drug screens. The use of zebrafish embryos and larvae for environmental agent testing is also well established. Furthermore, zebrafish embryos can be genetically manipulated, and because these embryos are transparent, development can be monitored and phenotypic changes can be scored easily. There are no cures or effective long-term treatments for mitochondrial diseases. To fulfill our long-term goals of developing therapeutic treatments and new biomarkers for the early detection of mitochondrial disease, we are investigating pathways that are important in the development of mitochondrial disease, and the role of environmental and drug modifiers on mitochondrial function.

One or more keywords matched the following items that are connected to Chan, Sherine

Item Type	Name
Academic Article	Mitochondrial toxicity in hearts of CD-1 mice following perinatal exposure to AZT, 3TC, or AZT/3TC in combination.
Academic Article	Molecular diagnosis of Alpers syndrome.
Academic Article	Disease mutations in the human mitochondrial DNA polymerase thumb subdomain impart severe defects in mitochondrial DNA replication.
Academic Article	Mitochondrial disorders of DNA polymerase ? dysfunction: from anatomic to molecular pathology diagnosis.
Academic Article	The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit.
Academic Article	Decreased mtDNA, oxidative stress, cardiomyopathy, and death from transgenic cardiac targeted human mutant polymerase gamma.
Academic Article	DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations.
Academic Article	Functional analysis of mutant mitochondrial DNA polymerase proteins involved in human disease.
Concept	DNA, Mitochondrial
Academic Article	Urinary mitochondrial DNA is a biomarker of mitochondrial disruption and renal dysfunction in acute kidney injury.
Academic Article	Zebrafish lacking functional DNA polymerase gamma survive to juvenile stage, despite rapid and sustained mitochondrial DNA depletion, altered energetics and growth.
Academic Article	Inherited mitochondrial genomic instability and chemical exposures.

Search Criteria

DNA Mitochondrial