Know More About Mitochondrial Disease and How You Can Help Out

Published by Faraz Ahmed in Diseases and Conditions, 2 months 1 week 3 days 16 hours 38 minutes 3 seconds ago

Mitochondria, which are found in all cells in the body, use food and oxygen to produce energy. It has recently been recognized that the mitochondria are also the only source in the body for the production of uridine, an essential precursor for the synthesis of RNA and DNA as well as other cellular functions. This observation led researchers to evaluate synthetic uridine and triacetyl uridine as a therapy for a variety of mitochondrial disorders.

All the other proteins in mitochondria (99%) come from genes in the nucleus, and are therefore expressed and tailored to meet the specialized needs of each cell. In fact, since a cell makes only about 10,000 to 15,000 proteins, mitochondria contain 20 to 30% of all the proteins in the cell. And that is why the mitochondria are known as the powerhouses of the body. And therefore the mitochondrial disease, if untreated badly affects all the organs in the body.

Mitochondrial diseases take on unique characteristics both because of the way the diseases are often inherited and because mitochondria are so critical to cell function. The subclass of these diseases that have neuromuscular disease symptoms are often referred to as a mitochondrial myopathy. Within each cell are tiny compartments called organelles. They are like organs for the cell, each type carrying out its own specialized function.

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When the mitochondria are not working properly (as in the case of mitochondrial myopathy), there is an energy shortage within the body and those organs that consume large amounts of energy (such as muscle, brain and the heart), are then affected. Approximately every 15 minutes, a child is born who will develop a mitochondrial disease by age 10. Mitochondrial disease is the body's inability to convert food into energy, often resulting in organ failure, seizures and vision or hearing loss. Diagnosis of mitochondrial disease is complicated by the fact that mutations usually are found in only a fraction of the mitochondrial genomes in a given cell. The severity and specific symptoms of mitochondrial disease depend on the proportion of damaged mitochondria, which can vary between people, between tissues, between cells, and can also change with age.

The United Mitochondrial Disease Foundation is redefining hope for families affected by mitochondrial diseases--hereditary disorders, now considered as common as childhood cancers, which affect the cell's ability to produce life-sustaining energy. UMDF offers support to all sufferers of mitochondrial disorders regardless of diagnosis, suspected or confirmed.

In order to further its quest for a cure, the UMDF began its research program in 1997 to fund basic and clinical research on mitochondrial disorders. Since the program began, the UMDF has funded more than $5 million of research, redefining hope for the thousands of children and adults whose lives are compromised or shortened by the effects of mitochondrial disease. We can do the same with mitochondrial disease - but ALL of us need to work together.

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