Tag Archives: DNA

3 Parent DNA in the News

Day by Day with a Movement Disorder Posted on by  

You may have seen the news stories about a baby boy born this year with 3 parent DNA. If you’re interested, it’s easy to find with a Google Search for “3 parent dna”. This form of artificial conception is legal at this time only in the UK. So the American doctor who performed this procedure went to Mexico, where rules are evidently more lax.

2 Kinds of DNA

The human egg cell from the Mom has two distinctly different kinds of DNA. The DNA in the nucleus carries all those characteristics we associate with family, like hair color, ethnicity, stature, etc. The other kind of DNA is NOT in the nucleus. This DNA is in the mitochondria organelles found in each cell, including the mother’s egg cell. The Mitochondria are responsible for converting our food into the energy each cell needs to function properly.

We ALL have some level of damaged nuclear and mitochondrial DNA. Mutations occur naturally over many generations of procreation. Over our lifetime, we eat unhealthy foods and take chemicals into our body intentionally and unintentionally. We are assaulted by various viruses and bacteria. The older we get the more faulty DNA we have.

The mother in this news story had already miscarried 6 times and had carried 2 babies to full term. But they were not healthy babies, and both died very young. They had Leigh’s Disease, which is caused by faulty mitochondrial DNA passed from the mother to her babies.

Mitochondrial DNA is passed from mother to child. The baby does NOT receive any mitochondrial DNA from the father.

So, they harvested egg cells from the mother and fertilized the eggs with the father’s sperm. Many people who cannot conceive naturally go through in vitro fertilization. So that’s not that unusual.

How it Was Done

What made this conception so ground breaking is what they did BEFORE they fertilized the egg with the father’s sperm. They literally took the Mom’s nucleus out of her egg cell and put her nucleus into another woman’s egg cell. This prevented the mother’s defective mitochondria from being passed on to her baby. And then they implanted the fertilized embryo into the mother’s womb.

The baby boy has all the genetic characteristics of his Mama and Daddy, except the donated mitochondria work the way they should.

Controversy

Obviously this little boy’s health is going to be followed by the medical community – probably for his whole life. And just as certain will be a debate on whether this doctor should have performed this procedure without sanction from the medical community.

Having miscarried and having trouble even getting pregnant myself, I now suspect my own mitochondrial disease contributed to our difficulty conceiving. Let the medical community and legal authorities deal with the ethics, research methods, and legality of this 3 parent DNA conception.

I can only pray that this little boy will grow up to be a healthy young man.

Mitoland – A Guide for Mitochondrial Patients and Parents

Day by Day with a Movement Disorder Posted on by 6

I’ve been reading everything I can get my hands on about Mitochondrial Myopathy, and I’ve added several links to resources in the right sidebar. But the best lay explanation of what’s going on in Mitochondrial Diseases is a pdf from Cleveland Clinic called Mitoland.

I have the kind of Mitochondrial Disease that is caused by defects in the mtDNA, so it is 100% inherited from my mother. ALL mtDNA is inherited only from the mother. I’m an only child, but Mama would have inherited it from her mother, my grandmother. My mother was diagnosed with Parkinson’s at one point and was diagnosed with Alzheimer’s in later years. One of her brothers died of ALS, and her other brother died fairly young of a heart attack. Her mother, my great grandmother, died of cancer. I can’t help but wonder if all these family members on my mother’s side actually were exhibiting various manifestations of Mitochondrial Disease, as MITO is associated with all these diseases.

I’m sad to say that means I’ve passed some number of those defective mtDNA to our daughter, who has passed some number of them on to her three children. As I understand it, there’s no way to know how much of the defective mtDNA has been passed along from one generation to the next, as that depends on the mtDNA makeup of the particular egg cell that was fertilized at the moment of conception.

Test Results??

Day by Day with a Movement Disorder Posted on by 6

The Neuromuscular Specialist called the other day – 2 days after I had called his office and left a message asking for an update on the test results. He was rattling off a lot of medical terms I wasn’t familiar with, and his thick accent didn’t help in understanding what he was telling us. But from what I could understand he thinks I have Mitochondrial Myopathy, which is a genetic disorder involving DNA mutations. I questioned him about that, as it would seem logical to a lay person that if it were genetic I would have had symptoms my whole life. He said symptoms often didn’t show up until a person’s 50’s or 60’s, and my first movement disorder symptoms did show up in my late 50’s. And I was what people used to call a sickly child.

From what I’ve read it’s actually called Adult Onset Mitochondrial Myopathy. I did find a very good information source online at the UMDF, United Mitochondrial Disease Foundation . Once I joined with a free membership I was able to read quite a few helpful articles.

There’s a long list of possible symptoms associated with MITO, as it’s abbreviated, depending on which organs are affected by the gene mutations. But I do recognize myself in the list. Even the Type II Diabetes is on the list, as well as the Myoclonus.

He is scheduling me for a muscle biopsy for a more conclusive diagnosis, although even then it won’t be definitive. But I’ll feel better knowing we’d tried everything we can to pin down the diagnosis and what type of MITO I might have. I handle the Devil I Know much better than an unknown enemy. There’s just something about being able to read about the disease that helps me deal with it – even if there is no real treatment for it.

There are some articles I’ve read that suggested there are some vitamins and supplements that may help to delay the progression of the mutations, but these articles caution not to take them without medical supervision, as some can actually make variations of MITO worse, rather than delay progression.

So it’s still a waiting game, as I continue to be very weak and find walking to be difficult and slow and holding up my head very tiring and painful.