Mitoblog

Scientists have successfully tested some germline gene therapy involving replacing genetic mutations in mitochondrial DNA of a mother’s egg to produce a disease-free, or genetically proper, egg.

“In theory, this research has demonstrated it is possible to use this therapy in mothers carrying mitochondrial DNA diseases so that we can prevent those diseases from being passed on to their offspring,” said Shoukhrat Mitalipov, of Oregon Health and Science University in Beaverton, Oregon.

While conventional gene therapy has been tried in humans for over 20 years, germline gene therapy – involving mitochondrial DNA – is new and means that the changes would be passed on to the next generation.

Read more about this new study HERE. This is exciting news in the world of mitochondrial disease!

For the first time, researchers have now determined that chronic kidney disease/hemodyalisis patients have impaired mitochondrial function. In fact, their conclusion drawn thus far indicates that the mitochondrial dysfunction may be the cause of their disease! You can read about the research here.

This is yet another reason why we need to increase research into mitochondrial dysfunction and disease! Chronic Kidney Disease now joins other ailments such as Parkinsons and Alzheimers to be specifically linked to mitochondrial dysfunction and failure.

Recent research has confirmed what many mito families already know – mito patients have an increased susceptibility to infection, particularly in the respiratory tract. With the H1N1 (Swine Flu) running rampant around the globe, and as the cold and flu season ramps up in the United States, mito families need to re-evaluate the amount of contact they have with the general public. The flu is mainly a respiratory infection – so its likely that mito patients will also be more susceptible to contracting it.

This also seems to be the experience of our family with our “mito kid” Ainsley. She catches colds and other infections very easily and, the worst part, is that while other kids may still be able to function and/or are able to fight it off quickly, Ainsley is not. It takes her much longer to get over an illness and it takes a harder toll on her body.

You can read more about the “stress signals” the researchers refer to in the following article.

Stress signals link pre-existing sickness with susceptibility to bacterial infection

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Pfizer recently announced that Dimebon (latrepirdine) is in Phase 3 trials and doing well. The drug is targeted to treat Alzheimer’s disease, but it may be one that we need to look at for treatment of mitochondrial disease as well.

Dimebon, according to Pfizer, is thought to potentially stabilize or improve mitochondrial function in a way that prevents neurons from damage and dysfunction. This is a distinct and new approach to Alzheimers from other medications on the market, and highlights the relationship between mitochondrial dysfunction and Alzheimers’ disease.

Clearly, this is one drug we need to keep our eyes on. Pfizer may be approaching it from the Alzheimers bent as, once again, Alzheimers is a “hot” and “sexy” topic and there is a large economic market for drugs. Regardless, we need to continue to push the marketplace, researchers, pharmeceutical companies, and especially the government to fund more research for mitochondrial disease, as mitochondrial dysfunction is a clear player in so many other devastating diseases.

On the right side you can now sign up for my RSS feed of MitoBlog! We are gearing up on MitoBlog and want to bring you all the news about mito that is out there! Good news, fundraisers, treatments, therapies, medications and everything else!

Leave a comment and let me know what you want to hear about!

MEDomics has started using a new test called MitoDx to detect any and all mutations in any of the 37 identified mitochondrial genes. You can read more about it here. This is supposed to be a new way to help do early detection of mitochondrial disorders that do not require as invasive of testing (as the usual muscle biopsy). While it does detect mutations, it may not identify all with mitochondrial disease or dysfunction as there may be genes not yet identified that affect the mitochondria.

“To my knowledge, MEDomics is the first laboratory to offer a whole genome clinical diagnostic test utilizing the powerful NextGen sequencing technique” says Steve S Sommer, MD, PhD, Founder and President of MEDomics. (For more on the test itself, go here .)

It looks promising! I’m going to ask our mito doctor about it for our daughter.

Penwest Pharmaceuticals has been working on a new mito drug – A0001 – for the treatment of mitochondrial diseases. The Phase 1b Trial of the drug under FDA guidelines went well and they are moving the drug into the next phases of the trial, as they move forward on orphan drug status and closer to an FDA approved medication for mitochondrial disease! The link will take you to the press release article for more information. It is great that there is some attempts being made to make medications to help mito!

Penwest Announces Results of Phase Ib Trial of A0001

I found a fabulous resource today while I was researching yet another issue regarding mito and my daughter. Mitoaction has a Clinician’s Guide on their website which is a wonderful resource for the patient, caregiver or medical professional. The guide is totally on their site and different sections are easily accessed by clicking on them. You even have an option to print the page/section you are reading as you go along.

For me, I think its a great resource for parents of mito kids. Read the guide and print out sections that deal with issues your child is dealing with and take them to their doctor(s). While the guide is a wonderful resource for primary care physicians, I think that specific sections would be very valuable to take to a specialist’s appointment – if for nothing else than to have a starting point on many difficult topics or to give you ideas for questions to ask.

I urge you to look at it and pass it on – the link, this blog post, or printed pages – to anyone and everyone that comes into contact with your child. There is even a printout for dealing with mito in school! That’s something EVERY mito parent should print, pass out, and hold onto!

In my web browsing, I ran across Marcel’s Way. Its a very interesting idea and organization that’s sole purpose is to support mitochondrial patients and their families in New Hampshire.

Some of the interesting things they do are: family vouchers for $5 when a child/patient has a metabolic or mitochondrial appointment at the hospital or if they are admitted to the hospital; grants ranging from $100 to $1000 to help families pay for medical equipment or other items to improve the life of their mito child which are not covered by insurance or other means; and this coming Saturday, May 9th, they are holding a walk-run event to raise money for their organization.

If you live in New Hampshire and you have a mito kid in your family, you should really check this out!

Wouldn’t it be great if we could get organizations like this in all the states or in different areas of the country? Maybe even the local UMDF chapters can look into doing some of these programs. Its the little things that help out dealing with the day to day of mitochondrial disease.

This coming Saturday, May 10th, is the 8th Annual Run Wild for a Cure in Cleveland, Ohio. They will have a 5K event and a 1 mile walk with entertainment, refreshments, a raffle and plenty of fun! The cost ranges from $15 to $25 per person, depending on age, and includes an event tshirt, admission to both the Cleveland Metroparks Zoo and Rainforest for the WHOLE day, and all the extras after the event! All proceeds will benefit the United Mitochondrial Disease Foundation. You can go HERE for more information and to sign up!

My daughter’s team is Team Ainsley – we’d love to have you join us and help raise money to find a cure!