Australia Examines In Vitro Technique That Prevents Mitochondrial Disease

According to a report by the Syndney Morning Herald, Australia may soon approve an in vitro fertilization technique known colloquially as the three-parent technique. This would allow families to greatly reduce the risk of genetic disorders, including mitochondrial disease. One example of someone who could benefit is Kahlia Holroyd. She’s a 25-year-old who would love to have a family, but fears that she could pass on the disease she knows runs in her family. Keep reading to learn more, or follow the original story here for more information.

What is Mitochondrial Disease?

The term mitochondrial disease actually refers to a group of genetic disorders. What they have in common, is their effect on the energy-making center of human cells. Mitochondria exist in all human cells. This means that mitochondrial disease can affect any system of the body. The brain, muscles, and heart are some of the most commonly affected.

Symptoms of mitochondrial disease may include poor growth, muscle weakness and a lack of coordination, seizures, and developmental delays. Other common symptoms include problems with hearing or vision, diabetes, and many forms of heart, liver, or kidney disease. Because of the number of systems in the body which may be affected, symptoms are general and can not be completely categorized. Click here to learn more about mitochondrial disease.

All in the Family

Kahlia Holroyd wants a family of her own. She imagines having three or four children. She says, however, that knowing the women in families carry the genetic mutation for mitochondrial disease put her in a tough place. She knows it’s in her genes because her brother Matthew has it. Kahlia was 17 when her brother, Mathew, experienced a stroke. He had been in seemingly great health prior to this incident. Over a span of seven years, Matthew has experienced 14 strokes. He’s now losing his hearing, and vision. He has difficulties remembering, and walking.

Kahlia, who has a wedding planned for September, says she just wants to guarantee the best possible health for her children. The procedure before the Australian government, known as mitochondrial donation, would allow her to do this. It would allow her to give her children the life she envisions for them.

The “Three Parent” Technique

Australia is set to become only the second nation in the world to have legally supported mitochondrial donation. The United Kingdom, currently stands as the only nation legally practicing the procedure also referred to as the three parent IVF technique.

In short, the technique works by replacing the mutated genetic material in the biological mother’s egg with healthy material from a donor. This mitochondrial donation accounts for only one tenth of the egg’s genetic makeup, but could save up to 20 children per week from some form of mitochondrial disease. Most children diagnosed with mitochondrial disease do not survive more than five years. No treatment currently exists.

Currently the technique is illegal on the basis of two previous laws regarding the research of human embryos and a prohibition on human cloning. Experts point out that the ban here is mostly semantic. The type of genetic modification described in these laws simply was not imagined nor matches the type of genetic modification in mitochondrial donation.

With the United Kingdom already supporting the procedure, and showing a method for legally implementing it, it seems likely Australia will follow. Only minor changes to the UK program are necessary to fit the Australian context.

What are your thoughts about living with mitochondrial disease? Share your thoughts, and your hopes, with the Patient Worthy community!

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