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Mitochondrial Disease Research Paper

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Mitochondrial Disease
Victoria Yang
Anatomy and Physiology 1 Section 009, Richard Adams, October 21, 2015 Mitochondrial diseases result from failures of the mitochondria, specialized compartments present in every cell of the body except red blood cells. Mitochondrial disease is an inherited neurological disorder that underlies many very common illnesses of adulthood, including Alzheimer’s, dementia, Parkinson’s disease, diabetes, hypertension, heart disease, osteoporosis, cancer, and even the aging process itself (New initiative aims to improve early detection, treatment of mitochondrial disease in Canada 2015). Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. Due …show more content…
Therefore, mitochondrial diseases are caused by mutations in wither mtDNA or nuclear DNA (Overview of Mitochondrial Diseases). A male does not transmit the mtDNA pathogenic variant to his offspring. A female harboring a herteroplasmic mtDNA single nucleotide variant may transmit a variable amount of mutant mtDNA to her offspring, resulting in considerable clinical variability among sibs within the same family (Chinnery 2000). Depending on which cells are affected, symptoms may include loss of motor control, muscle weakness and pain, gastro-intestinal disorders and swallowing, poor growth, cardiac disease, liver disease, diabetes, respiratory complications, seizures, visual/hearing problems, lactic acidosis, developmental delays and susceptibility to infection (What is Mitochondrial …show more content…
But there is no guarantee that patients will ever benefit. Even if the techniques work safely, to offer them now would invite a jail sentence. To prevent a case of mitochondrial disease, scientists would create an embryo with genetic material from both parents and a third person acting as a donor. While gene therapy (inserting healthy genes) has been used to treat patients in the past, this marks a new level of human genetic modification, and sets a precedent by introducing genetic changes that pass down to future generations. The ethical issues raised by the procedure are clear but for many doctors these are overridden by the chance to prevent life-threatening disease. The best that doctors can do today is reduce the risk of children being born with mitochondrial disease. Specialist clinics already offer chorionic villus sampling (CVS) at around 11 wekks into pregnancy, which can pick up genetic abnormalities. Some women who carry mtDNA mutations opt for IVF. That way, doctors can use a technique called preimplantation genetic diagnosis to select embryos that are free of the disease. In Newcastle University, Turnbull, a professor of neurology and director of a center for mitochondrial research, is working on ways to eliminate the risk of disease by replacing the mother’s faulty mitochondrial wholesale withthose from a healthy donor. One

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