January 23, 2021

The Niche

Trusted stem cell blog & resources

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

7 min read

It’s a particularly exciting time for the stem cell field. One of the most notable developments in the last year or so is the production and preliminary study of a totally new type of human embryonic stem cells (ESC) made by nuclear transfer instead of using leftover in vitro fertilization (IVF) embryos. This process of so-called therapeutic cloning has the power to produce patient specific ESCs called NT-ESCs that can in principle be used in the future for autologous transplants for a number of diseases …Read More

5 min read

Dear UK Parliament and Science and Technology Committee, I am writing to you about your deliberations on “mitochondrial donation” (also known as 3-parent technology) intended for the purpose of preventing heritable mitochondrial disorders. I am concerned about the Department of Health’s recent draft regulations that would allow 3-parent experiments to go forward and the possibility that the UK Parliament may vote to allow it. This experimental technology has a noble goal, but in my opinion there are too many unanswered questions and risks that remain to allow …Read More

3 min read

For the first time ever, scientists have successfully used somatic cell nuclear transfer (SCNT) via the process of therapeutic human cloning to generate normal human embryonic stem cells (hESC). Recall that there are two kinds of human cloning: therapeutic (which is reported in the new paper discussed in this post) and reproductive, which is making an actual new person with an identical genome to an existing person. The latter has never been achieved, but some of us are worried it is coming sooner than …Read More

2 min read

A paper just came out in Nature yesterday entitled: “Nuclear genome transfer in human oocytes eliminates mitochondrial DNA variants.” It’s surely risky of me to say this, but is this paper really a clinically-relevant breakthrough for mitochondrial disease worthy of a Nature paper? The study as science is fine and very interesting, but it seems  quite questionable to me to so strongly invoke clinical relevance as they do (even if they say some stuff must be discussed first): Before proceeding with human clinical trials on …Read More