Archive by Author

Mito, the Aging Process & Other Diseases

13 Apr

There is more and more research connecting mitochondrial dysfunction with many other major diseases and illnesses – including autism, parkinson’s, alzheimer’s, and even some forms of cancer. The link between the mitochondria and other diseases, as well as aging in general, is in its infancy and needs much more research! Not only will this research help us understand many other conditions, but it may also lead to treatments and cures – for mitochondrial disease as well.

Vamsi Mootha, MD, PhD at Harvard speaks on behalf of about the impact of the mitochondria on many common diseases and the aging process in this video. Definitely interesting!

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Mighty Mitochondria in Action – Video

10 Apr in conjunction with students from the Center for Digital Imaging Arts at Boston University have put together an informative video that helps explain what happens to cause mitochondrial disease. This is a pretty interesting and informative video that would be great to show to teachers, friends, and family to help explain “mito” in a simple way. While it is not all-encompassing, it is not intended as such – rather it was made to simply give an introduction to mitochondrial disease and raise awareness.

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Autism Speaks Looking at Mitochondrial Dysfunction as Cause

13 Mar

I’m very happy to report that Autism Speaks is starting to seriously consider mitochondrial dysfunction and its relationship to autism. While the Hannah Poling case initially got everyone jumping up and down about the connection between vaccines and autism, once again, the more important thing that should have come from that case is that Hannah Poling had a diagnosis of mitochondrial dysfunction. The fever that Hannah experienced as a result of the vaccinations, rather than the vaccinations themselves, may really be the “catalyst” that caused her autistic regression .. chew on that…

On the Autism Speaks blog, a recent article was posted that I feel would be very beneficial to the mito community and the autism community to read. It looks at the relationship between fever and mitochondrial disease as a cause for autism and autistic regression. Clearly, this is a link that needs further study and serious research.

Now, even if your child does not have autism, ANY research into mitochondrial dysfunction and disease is a WIN for the mito community! It can only help us with awareness and helping to understand this complex disease and how to treat and ultimately cure it! I applaud the autism community and Autism Speaks for their groundbreaking look at mito as a possible cause for at least some forms of autism.

Post your opinion on this in the comment section – especially how important you think it is for the mito community to partner with some of the large organizations such as Alzheimers, Parkinsons and Autism, in fundraising and research to spur mutually beneficial answers to our intertwined problems!

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The Brittany Wilkinson Mitochondrial Disease Research and Treatment Enhancement Act

27 Jan

On Thursday, December 10, 2009, Senator Barbara Boxer (D-CA), introduced S. 2858 – “The Brittany Wilkinson Mitochondrial Disease Research and Treatment Enhancement Act of 2009”. Senators Richard Durbin (D-IL), John Kerry (D-MA) and Robert P. Casey (D-PA) all signed on as co-sponsors of the legislation.

The house measure is a companion bill, HR 3502, which was introduced by Representative James McDermott (D/WA-7), introduced in July, 2009, and carries 29 co-sponsors representing a mix of democrats and republicans. Both measures call for the creation of an ‘Office of Mitochondrial Medicine’ within the National Institutes of Health (NIH); asks the NIH to develop a research plan to promote and coordinate efforts to educate researchers and health providers about mitochondrial disease; and for the NIH to award grants to increase research of mitochondrial diseases and to establish Mitochondrial Disease Centers of Excellence to promote research, education and mitochondrial medicine training.

The United Mitochondrial Disease Foundation has an Action Center where you can find your legislator and also get information on how to send a letter asking for their support. You can go HERE to help advocate for this worthy cause!

I’ll post the link HERE shortly on where you can go to see full copies of the bill and/or download it. I’ll also be keeping you updated on the status of this bill!

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Taking the Blog to a New Level

27 Jan

When I first started this blog, the idea was to put cutting edge information on mitochondrial disease on the site – so that it would be a place that would have all the information on mitochondrial disease in one place.

As I have worked on the blog and thought more about it, while I am still going to post information on new research, articles, and all information related to mitochondrial disease, I am also going to focus on my personal experiences with my daughter’s mitochondrial disease. I will be posting articles on medical and therapy tips, dealing with IEPs, day-to-day issues with a special needs child or a medically fragile child, and just dealing as a parent with the demands and stresses that having a child with mitochondrial disease puts on you and your relationships.

I’m hoping that by expanding the scope of this blog, I will post things that are of interest and help to more people and families dealing with mitochondrial disease, or even just special needs children or with rare diseases.

I look forward to hearing from you! Leave a comment and let me know if there are certain things you would like to hear about, things that you like that I am writing, and whether I need to focus on something specific!

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Autism and Mitochondrial Disease Link?

27 Jan

In a recent study, researchers found more evidence to possibly connect autism and mitochondrial disease. The article, Fever Plus Mitochondrial Disease Could Be Risk Factors for Autistic Regression, is not yet fully published, but the abstract indicates a possible link. Their study was based upon twenty-eight (28) patients who fit both the criteria for autism and had confirmed mitochondrial dysfunction. Over 70% of the study group regressed after a high fever – not necessarily after vaccinations. However, it appears that the study recommends that fever management is paramount after vaccinations in order to help reduce regression risk in this population.

Unfortunately, most children with mitochondrial disease are not diagnosed until well after they have already been vaccinated. Extrapolating from the abstract alone, aggressive fever management in all children receiving vaccinations would be the best course of action.

Once the full article is published, I will do an update on it with more information.

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Germline Gene Therapy Could End Mitochondrial Diseases

27 Aug

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!

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Chronic Kidney Disease Linked to Mitochondrial Dysfunction

22 Aug

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.

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Stress signals in mito disease increase susceptibility to bacterial infection

29 Jul

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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Investigational Drug for Alzheimers – Could it help Mitochondrial Disease?

19 Jul

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.

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