Cure for mitochondrial diseases steps closer with stem cell breakthrough

Saturday, September 05, 2015

A large group of scientists - including teams from Oregon Health & Science University in Portland and the Salk Institute for Biological Studies in La Jolla, CA - has successfully converted skin cells from patients with mitochondrial diseases into disease-free stem cells.

In the journal Nature, they describe how they developed and tested two different but complementary cell reprogramming methods to generate mutation-free lines of stem cells from human patients with mitochondrial diseases.

The idea is that the stem cells can then be used to generate disease-free heart, brain, muscle and eye cells.

However, until stem cell technology is safe enough for transplanting into patients, in the short term, the methods are likely to be confined to research.

Senior author Juan Carlos Izpisua Belmonte, a professor in Salk's Gene Expression Laboratory, says the methods will be a great boon to basic research. They will help scientists examine more closely the difference between cells with mitochondrial mutations and healthy cells.

Estimates suggest around 1 in 4,000 people has mitochondrial disease, a group of inherited, chronic illnesses that arise from any one of 200 mutations in mitochondrial DNA that are passed on from mother to child. The diseases can be present at birth or develop later in life.

Mitochondria are tiny enclosures inside cells that produce energy from food. They have their own DNA that is separate from the main DNA in the cell nucleus, and unlike nuclear DNA, comes only from the egg (not the sperm).

Mutations in mitochondrial DNA leave cells without enough energy to develop and function properly. This leads to progressive, severe physical, developmental, and cognitive disabilities, with symptoms ranging from poor growth, muscle weakness, pain and loss of coordination, to seizures, blindness, hearing loss, learning difficulties and organ failure.

Treatments that can ease some of the symptoms or slow the progression of mitochondrial diseases do exist, but as yet, none can cure them.

Earlier this year, the UK took the decision to allow the creation of embryos from three people. But, while that would prevent children being born with mitochondrial disease, it does not help people who already have the condition.


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