Magazine article The Exceptional Parent

Common Causes of Complex Disorders

Magazine article The Exceptional Parent

Common Causes of Complex Disorders

Article excerpt

Increasingly, mitochondrial diseases are recognized as a relatively common cause of degenerative diseases in both children and adults. While the role of mitochondria as the power plants of the cell has been understood at the biochemical level for decades, the role of mitochondrial defects in human disease has only recently been recognized. The delay in recognizing the importance of mitochondrial diseases is the result of their variable and complex signs and symptoms as well as the novel genetics and atypical inheritance of mitochondrial defects.

The mitochondria generate energy by breaking down carbohydrates and fats through a chain of chemical reactions. Since each organ in the body relies on mitochondrial energy to a different extent, the nature and severity of symptoms vary widely in patients, depending on the specific mutations in their nuclear and mitochondrial genes. Indeed, since the percentage of mutant mitochondrial DNAs (see Glossary on page 50) can differ among individuals in the same family and even among tissues of the same individual, the same mitochondrial DNA mutation can cause different symptoms even in members of the same family.

Though all tissues make and need mitochondrial energy, the areas of the body that are most reliant on mitochondrial energy are the central nervous system (brain and spinal cord), heart, skeletal muscle, endocrine systems (glands like the thyroid and pancreas) and kidneys. By their effects on these areas, mitochondrial diseases can cause certain forms of blindness, deafness, dementia, movement disorders, epilepsies, seizures, heart disease, muscle disease, diabetes and kidney problems. …

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