e-book Mitochondrial Medicine: Mitochondrial Metabolism, Diseases, Diagnosis and Therapy

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Mitochondrial disorders

Mitochondrial Case Studies: Underlying Mechanisms and Diagnosis offers the science behind mitochondrial disease with a case studies approach. Since mitochondrial diseases are diverse and influenced by genetic, environmental, and social-economic factors, this publication will help students, physicians, scientists, health care students, and families recognize and accurately diagnose mitochondrial disease and learn about potential treatments. Russell P.

Saneto is a pediatric neurologist who specializes in diagnosis and treatment of mitochondrial disorders and intractable epilepsy. His medical degree was obtained from the Des Moines University of Osteopathic Medicine and he did his pediatric, pediatric neurology, and pediatric neurophysiology fellowship at the Cleveland Clinic in Ohio. Parikh completed his residency in pediatrics and fellowship in child neurology at the Children's Hospital of Pittsburgh. He received additional training in genetics and metabolism at Cleveland Clinic and Centers for Inherited Diseases of Metabolism.

Mitochondrial Metabolism, Diseases, Diagnosis and Therapy

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Because cysteamine bitartrate, currently approved by the FDA to treat a rare kidney disorder called nephropathic cystinosis, was thought to act on biological pathways similarly to NAC, Falk's team performed their current preclinical research study. However, we found it had beneficial health effects that appear to result from different mechanisms than we had anticipated.

The researchers found an intriguing set of different benefits in three models of mitochondrial disease: human patient cells fibroblasts , microscopic worms C. Cysteamine bitartrate modestly improved mitochondrial metabolism and reproductive capacity in the worms, with reduction in oxidative stress. In the zebrafish, the drug had more dramatic benefits, preventing brain death and neuromuscular defects caused by mitochondrial RC dysfunction.

Mitochondrial Case Studies - 1st Edition

In the human fibroblast cells, from mitochondrial disease patients, the drug increased the cells' resiliency and ability to survive when subjected to chemical stressors. Falk cautioned that patients and families shouldn't self-prescribe antioxidants for mitochondrial disease, since safe and effective dosages and appropriate usages specific to different mitochondrial disease patient outcomes are yet to be determined. In this current study, all the potential benefits observed in cells and animals occurred at low concentrations, with clear toxicity at higher doses.

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She added that several such new clinical diagnostic tests and outcome measure assessments to facilitate this process are under development in the CHOP Mitochondrial Medicine Frontier Program. Ultimately, she concluded, "better understanding each mitochondrial disease patient's oxidative stress and defense levels, together with carefully designed clinical trials to determine the health benefits or risks of candidate therapies, will enable a precision mitochondrial medicine approach to select optimal antioxidants and doses to improve health resiliency and outcomes for each patient.


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  • Materials provided by Children's Hospital of Philadelphia. Note: Content may be edited for style and length. Science News. Pre-clinical evaluation of cysteamine bitartrate as a therapeutic agent for mitochondrial respiratory chain disease. ScienceDaily, 26 February Children's Hospital of Philadelphia. An existing drug may have therapeutic potential in mitochondrial disease: Animal studies may offer clues to possible precision medicine approach.