Mitochondrial DNA is the small circular chromosome found inside mitochondria. The mitochondria are organelles found in cells that are the sites of energy production. The mitochondria, and thus mitochondrial DNA, are passed from mother to offspring.
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Inside the mitochondrion is a certain type of DNA. That's different in a way from the DNA that's in the nucleus. This DNA is small and circular. It has only 16,500 or so base pairs in it. And it encodes different proteins that are specific for the mitochondrial. Now, remember those pathways that are within the mitochondrion for producing energy. Some of the enzymes in those pathways, and some of the proteins that are needed to function in those pathways, are produced by the mitochondrial DNA. The mitochondrial DNA is critically important for many of the pathways that produce energy within the mitochondria. And if there's a defect in some of those mitochondrial DNA bases, that is to say a mutation, you will have a mitochondrial disease, which will involve the inability to produce sufficient energy in things like the muscle and the brain, and the kidney. Mitochondrial DNA, unlike nuclear DNA, is inherited from the mother, while nuclear DNA is inherited from both parents. So this is very helpful sometimes in determining how a person has a certain disorder in the family. Sometimes a disease will be inherited through the mother's line, as opposed to both parents. You can tell from a pedigree or a group of family history whether or not this is a mitochondrial disease because of that.
William Gahl, M.D., Ph.D.
Clinical Director, NHGRI Medical Genetics Branch; Head, Human Biochemical Genetics Section
Dr. Gahl studies rare inborn errors of metabolism through the observation and treatment of patients in the clinic, and through biochemical, molecular biological and cell biological investigations in the laboratory. His group focuses on a number of disorders, including cystinosis, Hermansky-Pudlak syndrome, alkaptonuria and sialic acid diseases. Dr. Gahl has a long-standing research interest in cystinosis, a lysosomal storage disorder caused by a mutation in the CTNS gene. Over the past two decades, Dr. Gahl's laboratory has elucidated the pathogenesis of this disease and demonstrated the safety and efficacy of cysteamine (²-mercaptoethylamine) therapy, a treatment that depletes cells of cystine.