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Chronic Fatigue Syndrome & Mitochondrial Dysfunction?

24 Nov

Researchers at Columbia University are recruiting for a trial of four nutrients that may support improved mitochondrial energy production in Chronic Fatigue Syndrome (ME/CFS) patients. The trial, set to start in February, will be randomized, double blinded, and placebo controlled, and now listed in (“Chronic Fatigue Syndrome: Correction of Mitochondrial Dysfunction by Conditioning Exercise and Nutraceutical Therapy” ).

They have found that patients with CFS and mitochondrial dysfunction both have elevated lactate levels after exercise and have similar results on nuclear magnetic resonance (NMR) spectroscopy.

Again, yet another connection to mitochondrial dysfunction!  While allegedly “rare” we are seeing so many more connections between mitochondrial dysfunction and other common medical issues!


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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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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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Mito Drug advances to FDA Phase IIa Trials

17 Jul

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

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Epilepsy Articles Go Mainstream

15 Apr

As I have posted before, many mitochondrial patients suffer from seizures daily. Epilepsy is finally getting some much-needed publicity in the April 20th edition of Newsweek. You can read the articles on their website which I have linked below.

My daughter has suffered from seizures since she was 4 weeks old. The longest she has ever gone without a seizure is 35 days. At this point, she is having between five (5) and eight (8) per day. While that seems like alot, there were times she had 20 to 50 seizures a day, and there are plenty of other epileptics who, despite using multiple medications, have even more seizures every day.

Hopefully, Newsweek has brought an issue to the forefront that is long overdue. Some of the startling facts that these articles mention:

  • Epilepsy is as common as breast cancer and takes as many lives.
  • Public and private funding for research lag far behind other neurological afflictions, at $35 a patient (compared, for instance, with $129 for Alzheimer’s and $280 for multiple sclerosis).
  • The mortality rate for people with epilepsy is two to three times higher—and the risk of sudden death is 24 times greater—than that of the general population.

Click on these links to read more and pass this information on to everyone you know – since one in ten people will suffer a seizure in their lifetime.

A Storm in the Brain

In the Grip of the Unknown

Agony, Hope & Resolve

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