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Mitochondrial Inheritance: Leber's Optic Atrophy

What is mitochondrial inheritance?

The normal 46 chromosomes in our body are contained in the center of the cell, which is called the nucleus. Mitochondria are structures in the cell located outside of the nucleus in the cytoplasm, that also contain genes that are separate from the ones in the nucleus.

Anatomy of a cell
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Unlike nuclear genes, which are inherited from both parents, mitochondrial genes are inherited only from the mother. If there is a mutation in a mitochondrial gene, it is passed from a mother to all of her children; sons will not pass it on, but daughters will pass it on to all of their children, and so on. The first human disease that was associated with a mutation in mitochondrial DNA is called Leber's Hereditary Optic Neuropathy, or LHON.

What is Leber's hereditary optic neuropathy (LHON)?

LHON causes a painless loss of central vision between 12 and 30 years of age. Both eyes are affected at the same time. Males will not pass the gene to any of their children, but females with the mutation will pass it to all of their children, regardless of whether they are sons or daughters.

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Online Resources of Medical Genetics

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