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SUMMARY:Engineering mitochondrial DNA in the mouse germline using designer
  nuclease technology - Ms Beverly McCann\, MRC Mitochondrial Biology Unit\
 , University of Cambridge
DTSTART:20180426T121000Z
DTEND:20180426T130000Z
UID:TALK103777@talks.cam.ac.uk
CONTACT:Lorena Escudero
DESCRIPTION:Mutations in mitochondrial DNA (mtDNA) have been linked to mit
 ochondrial diseases. In the majority of patients affected by these disease
 s\, the pathogenic mutation is present in a heteroplasmic state\; whereby 
 mutant and wild-type mtDNA co-exist. The proportion of mutant mtDNA dictat
 es the penetrance and severity of the disease. \nCurrently there is no tr
 eatment for mitochondrial diseases. The current options to prevent transmi
 ssion of diseases caused by mtDNA mutations\, are genetic counseling and p
 re-implantation diagnosis. However\, potential approaches for targeting th
 e mutations that cause mtDNA diseases could rely upon methods of removing 
 the mutated mtDNA\, such as mitochondrial replacement techniques or select
 ive degradation of pathogenic mtDNA by use of designer engineered nuclease
 s. In the latter approach\, DNA double strand breaks introduced by targeti
 ng pairs of mutant-specific engineered nucleases lead to degradation of th
 e mutated mtDNA subpopulation.\nUsing a mouse model of mitochondrial disea
 se that harbors a heteroplasmic point mutation\, we aim to selectively eli
 minate mutated mtDNA in mouse embryos by using mitochondrially targeted en
 gineered nucleases. This approach could be used to prevent germline transm
 ission of mtDNA diseases.\n
LOCATION:The Richard King Room\, Darwin College
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