subject: What is Mitochondria? [print this page] Mitochondria Mitochondria
There are several inheritable disorders that results from abnormal mitochondrial activity. The mitochondria involved have defective enzymes that reduce their ability to generate energy. Cells throughout the body may be affected, but symptoms involving muscle cells, neurons, and the receptor cells in the eye are most commonly seen because these cells have especially high energy demands.
In some disorders caused by defective mitochondria, the problem appears in only one population of cells. For example, abnormal mitochondria have been found in the nerve cells whose degeneration is responsible for the condition of Parkinson's disease, a nervous system disorder characterized by a shuffling gait and uncontrollable tremors.
More often, mitochondria throughout the body are involved. Example of conditions caused by mitochondrial dysfunction includes one class of epilepsies (myoclonic epilepsy) and a type of blindness (Leber's hereditary optic neuropathy). These are inherited conditions, but the pattern of inheritance is very unusual. Although men or women may have the disease, only affected women can pass the condition on to their children. All the mitochondria in the body are produced through replication of mitochondria present in the fertilized egg. Most, if not all, of these mitochondria were provided by the mother, as those carried by the male's sperm disintegrate shortly after fertilization. As a result, children can usually inherit mitochondrial disorders only from their mothers.
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Reference:
Martini, F.H., Bartholomew, E.F., & Welch, K. (2000). The Human Body in Health and Disease. Upper Saddle River, NJ: Prentice Hall, Inc.
