Scientists have shown that in one in every 4,000 births, some of the genetic code from our mitochondria – the ‘batteries’ that power our cells – inserts itself into our DNA, revealing a surprising new insight into how humans evolve.
Whole genome sequencing from a single blood test picks up 31% more cases of rare genetic disorders than standard tests, shortening the ‘diagnostic odyssey’ that affected families experience, and providing huge opportunities for future research.
Injecting a gene therapy vector into one eye of someone suffering from LHON, the most common cause of mitochondrial blindness, significantly improves vision in both eyes, scientists have found.
Mitochondria, the ‘batteries’ that produce our energy, interact with the cell’s nucleus in subtle ways previously unseen in humans, according to research published today in the journal Science.
Researchers have developed a genome-editing tool for the potential treatment of mitochondrial diseases: serious and often fatal conditions which affect 1 in 5,000 people.
Researchers have shown for the first time how children can inherit a severe – potentially fatal – mitochondrial disease from a healthy mother. The study, led by researchers from the MRC Mitochondrial Biology Unit at the University of Cambridge, reveals that healthy people harbour mutations in their mitochondrial DNA and explains how cases of severe mitochondrial disease can appear unexpectedly in previously unaffected families.
Professor Patrick Chinnery, an expert in diseases that affect mitochondria – the ‘batteries’ that power our cells – has been appointed as Professor of Neurology and Head of the Department of Clinical Neurosciences at the University of Cambridge. He will take up his appointment on 1 October.
Mutations might play a key role in the death of brain cells.
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