August 14, 2020

The Niche

Knoepfler lab stem cell blog

mitochondrial disease

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

3 min read

Remember that old TV show the Odd Couple with very proper Felix Unger and his polar opposite Oscar Madison who has all kinds of baggage? They’ve cloned it into a remake to be on TV soon here in the US in 2015. It seems only fitting then that actual human cloning research has a new odd couple of a sorts of its own as well. One part of this pairing is Woo Suk Hwang, who is most well known for past fraudulent and unethical …Read More

4 min read

It’s been somewhat of a helter-skelter time for the new technology often referred to as 3-person IVF or mitochondrial transfer as the UK considers whether to legalize this experimental technology for use in humans. I believe that this technology is not ready now for use in humans and for more background on why as well as other opinions you can see articles here. The admirable goal of this experimental 3-person IVF approach is to prevent transmission of mitochondrial diseases from mother to child, but …Read More