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Genetic Disease Research Studies

Genetic Disease Research Studies

The following is a list of Mitochndrial Genetic Disease research studies:

1.  Frantz MC, Wipf P. Mitochondria as a target in treatment. Environ Mol Mutagen. 2010 Jun;51(5):462-75. Abstract conclusion: Mitochondria are key organelles that perform essential cellular functions and play pivotal roles in cell death and survival signaling. Hence, they represent an attractive target for drugs to treat metabolic, degenerative, and hyperproliferative diseases. Targeting mitochondria with organelle-specific agents or prodrugs has proven to be an effective therapeutic strategy. More specifically, controlling the cellular ROS balance via selective delivery of an antioxidant “payload” into mitochondria is an elegant emerging therapeutic concept. Herein, we review the recent medicinal chemistry and clinical data of these exploratory strategies, which should point the way for future generations of therapeutics.

2.  Wallace, D. C. (1992). Mitochondrial genetics: a paradigm for aging and degenerative diseases?. Science, 256(5057), 628-632. Abstract conclusion: Studies of diseases caused by mitochondrial DNA mutations suggest that a variety of degenerative processes may be associated with defects in oxidative phosphorylation (OXPHOS). Application of this hypothesis has provided new insights into such diverse clinical problems as ischemic heart disease, late-onset diabetes, Parkinson's disease, Alzheimer's disease, and aging.

3.  Bonnen, P. E., Yarham, J. W., Besse, A., Wu, P., Faqeih, E. A., Al-Asmari, A. M., ... & Smith, F. (2013). Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance. The American Journal of Human Genetics, 93(3), 471-481. Abstract conclusion: Our data demonstrate that mutations in FBXL4 are disease causing and establish FBXL4 as a mitochondrial protein with a possible role in maintaining mtDNA integrity and stability.

4.  Walker, M. A., Volpi, S., Sims, K. B., Walter, J. E., & Traggiai, E. (2014). Powering the immune system: mitochondria in immune function and deficiency. Journal of immunology research, 2014Abstract conclusion: Mitochondria are critical subcellular organelles that are required for several metabolic processes, including oxidative phosphorylation, as well as signaling and tissue-specific processes. Current understanding of the role of mitochondria in both the innate and adaptive immune systems is expanding. Concurrently, immunodeficiencies arising from perturbation of mitochondrial elements are increasingly recognized. Recent observations of immune dysfunction and increased incidence of infection in patients with primary mitochondrial disorders further support an important role for mitochondria in the proper function of the immune system.



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