January 25, 2021

The Niche

Trusted stem cell blog & resources

Alejandro Ocampo

6 min read

In a new, thought-provoking paper today in Nature, Shoukhrat Mitalipov and a multi-institutional team report a significant advance toward potential novel ways to treat mitochondrial diseases. What are these illnesses? Mitochondrial diseases are rare, but devastating disorders caused by genetic mutations. Today they are largely impossible to treat in meaningful ways other than palliative care. Some of the mutations causing these diseases are in nuclear DNA, while others are in the mitochondrial DNA (mtDNA). The main current approach to prevention is preimplantation genetic diagnosis (PGD) …Read More

5 min read

The Juan Carlos Izpisua Belmonte group published a Cell paper today on using gene editing to reverse mutations associated with human mitochondrial disease. The paper is Reddy, et al. and is entitled, “Selective Elimination of Mitochondrial Mutations in the Germline by Genome Editing”. The authors report success using TALEN-based gene editing or mitochondrial-direct restriction enzyme (mito-ApaLI) to reduce the burden of mutant mitochondrial DNA (mtDNA). Their work was done primarily in mice, but also using chimeras made with murine oocytes fused with human cells bearing …Read More