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This week, in communities across the country, thousands of people are participating in events such as 5K walks, bake sales and speaking engagements designed to celebrate “Mitochondrial Disease Awareness Week.”
Each year, between 1,000 and 4,000 children in the U.S. are born with a mitochondrial disease and suffer from severe and devastating symptoms for which there is no cure and no effective treatment. Recent research suggests that 1 in 200 healthy people carry a DNA mutation that could potentially cause a mitochondrial disease in them or their offspring.
Mitochondrial diseases develop when the mitochondria – the body’s main energy source – do not function properly or are mutated. Mitochondria produce energy from food and oxygen. Because mitochondria are in almost all human cells, mutations that result in disease potentially can affect every body tissue. The mix of normal versus defective mitochondria can vary within the body’s different tissues, which can result in some organs of the body being healthier than others. Therefore, the severity of symptoms and how the disease manifests itself can vary from case to case. One person may suffer difficulty breathing and/or digestive problems, while another may not be able to walk, talk, see or hear. Some children may not be able to hold their mother’s hand.
Founded in 1996, the United Mitochondrial Disease Foundation works to promote research and education for the diagnosis, treatment and cure of mitochondrial diseases and to provide support for affected individuals and families. Since its inception, the UMDF has funded nearly $7 million in research, making it the leading non-governmental contributor of grants focused solely on mitochondrial disease. The UMDF, based in Pittsburgh, Pa., is a national organization, represented by 15 chapters and more than 50 groups and ambassadors in the United States and worldwide.
For more information about mitochondrial diseases or Awareness Week, visit www.umdf.org
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