Mitochondrial Disease and Mitochondrial Donation

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Source- This post on the Mitochondrial Disease and Mitochondrial Donation has been created based on the article “Mitochondrial donation: All you need to know about this mito disease” published in “Business Standard” on 10 July 2024.

Why in the news?

Scientists are preparing for a clinical trial to determine the safety and effectiveness of mitochondrial donation.

About Mitochondrial Disease

1. About: Mitochondrial disease (Mito) refers to a group of diseases that impair the mitochondria’s ability to produce the energy needed for organs to function properly.

2. Forms: Mito can appear in many forms, affecting one or more organs and potentially leading to organ failure.

3. Inheritance:

i)  Mitochondrial disease can be caused by faulty genes in nuclear DNA (inherited from both parents) or mitochondrial DNA (inherited only from the mother).

ii)  The severity of Mito can vary, even within the same family, where a mildly affected mother might give birth to a severely affected child.

iii) Mito is the most common inherited metabolic condition, affecting 1 in every 5,000 people.

4. Symptoms:

i)  Symptoms can range from mild to severe and can affect any organ, particularly those requiring high energy like the heart, brain, and muscles.

ii) Childhood Mito often affects multiple organs and progresses quickly.

About Mitochondrial Donation

1. Mitochondrial donation is a new IVF-based method that allows people with faulty mitochondrial DNA to have children without passing on the faulty DNA.

2. Procedure:

i) The nuclear DNA from the intending parents is inserted into an egg from a donor with healthy mitochondria.

ii) The resulting egg contains nuclear DNA from the parents and healthy mitochondrial DNA from the donor.

iii)  Sperm is then added to fertilize the egg, allowing the child to inherit nuclear DNA from both parents and mitochondrial DNA from the donor.

3. The procedure requires highly trained scientists and specialized equipment. Both the egg donor and the person with Mito receive hormone injections to stimulate the ovaries to produce multiple eggs. Eggs are retrieved through an ultrasound-guided surgical procedure.

4. Benefits: This significantly reduces or eliminates the risk of the child inheriting mitochondrial disease.

5. Challenges:

i)  Finding donor eggs is a significant challenge for mitochondrial donation.

ii)  Both frozen and fresh eggs are needed for research and clinical trials.

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