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Mitochondrial Disease and Mitochondrial Disease Awareness Week
Mitochondria are minute bodies inside the cell which play a crucial part in converting food into energy. Converting food into energy is known as metabolism. Mitochondria are tiny engines. When the mitochondria aren't working properly the cells don't get enough energy to live, and they begin to die. Mitochondrial diseases are extremely complicated and often go undiagnosed or misdiagnosed for years. They develop when the mitochondria - the body's main energy source - do not function properly.
Cell biologists worked out how mitochondria make energy four decades ago. Since then medical students have had to trace out how, after a glucose molecule is broken down, electrons from its oxidised metabolites move along a series of mitochondrial membrane bound proteins, building up an electrochemical energy gradient that can be harnessed to make adenosine triphosphate (ATP), the main energy source for cellular reactions. Cells have not only 46 chromosomes with DNA inside the nucleus, but also have small organelles called "mitochondria" in the cell but outside the nucleus that also have small amounts of DNA. These mitochondria are about the size of bacteria, but are part of normal cells.
Mitochondria are in every organ and a hallmark of the mitochondrial diseases is their multi system nature. Studies are directed towards understanding the effects of the mitochondrial disease in the individual patient with the goal of achieving a molecular diagnosis and identifying the best treatment for each patient.
Mitochondrial diseases are extremely complicated and often go undiagnosed or misdiagnosed for years. They develop when the mitochondria - the body's main energy source - do not function properly. Mitochondrial diseases or disorders are caused by defects in mitochondrial DNA, or by defects in regular DNA that affect mitochondrial function. Mitochondrial and metabolic medical conditions are now referred to as mitochondrial cytopathies. Mitochondrial cytopathies actually include more than 40 different identified diseases that have different genetic features.
Mitochondria, and the mtDNA that they contain, are inherited solely from the mother, as the paternal mtDNA present in the sperm are destroyed after the egg is fertilized. In almost all diseases caused by mutant mtDNA, the patient's cells will contain a mixture of mutant and normal mtDNA. Mitochondrial disease or cytopathy (from cyto-, cell, and -pathy, disease) is not uncommon. In three large population studies, approximately 1 person in 9,000 had either a disease-causing mitochondrial DNA mutation or another mitochondrial defect. Mitochondria produce energy in the form of adenosine triphosphate (ATP), which is then transported to the cytoplasm of a cell for use in numerous cell functions.
To help raise awareness about this disorder Mitochondrial Disease Awareness Week is observed. It is a week dedicated to tell the stories of mito patients and their families, celebrate their successes and raise awareness of Mitochondrial Disease nationwide. To date, 11 states have a resolution dedicated to the week.
About the Author For more information about this rare disorder please do check out my site dedicated to Mitochondrial Disease.
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