Science / Medicine : Eye Illness Traced to Mothers

A genetic defect passed on only by mothers to their children has been linked to some eye disorders and a type of epilepsy and may be responsible for even more diseases.

By analyzing patterns of genetic inheritance among several large Georgia families and analyzing specific genes, Emory University scientists linked genetic flaws in mitochondria, the cell’s energy producing bodies, to three inherited diseases.

In a study published recently in the journal Cell, the researchers linked mitochondrial defects to a rare disease of the central nervous system called myoclonic epilepsy. Its symptoms range from deafness and dementia to breathing difficulties and seizures.

Last summer--in the first discovery linking mitochondria to an inherited disease--the Emory team reported it associated a mitrochondrial defect to a puzzling form of blindness, Leber’s hereditary optic neuropathy.

The Emory researchers said their discovery may be an important step toward diagnosis and treatment of many previously unexplained diseases of the brain, heart and nervous system.