Mitochondrial bottleneck behind transmission of diseases from mom to child
December 13, 2008 by Grace Ibay
Filed under Cells and Chromosomes
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There are over 40 known diseases that are passed only from mother to child, some of them severe and debilitating. These diseases come from the mitochondrial DNA (mtDNA) of the mother, but the proportion of DNA that is passed to the children are so varied that scientists have no means of predicting the severity and presenting symptoms of the disease in the offsprings.
That is, until recently when scientists located a genetic bottleneck in the mitochondria of the mother’s developing eggs that determines the proportion of mutated mtDNA that mothers transmit to their child. Understanding this bottleneck event, and really predicting its outcome in the child, is so important in the treatment and genetic counseling of diseases that are maternally inherited.
The study appears in the December issue of the Nature Genetics journal.
