When researchers have finished (parts of) their study they will publish an article on the results, usually in peer-reviewed scientific magazines. Articles which are worthwhile reading and which concern studies into mitochondrial disease are sometimes difficult to find in the enormous pile of publications offered. IMP will list the most interesting ones here. If you come across a publication which should be mentioned here as well, please alert us. 

 For those of you who want to dive into more scientific publications you can have a look at:


Also interesting are the scientific workshops organised by researchers under the flag of the European Neuro Muscular Center. On their website you can find the past workshops and the reports in laymen's words.



Scientific research into mitochondrial disease is done on a worldwide scale. The scientists and clinicians involved have ongoing communication with each other. Active networks exist of university research centres, laboratories, patient organisations etc. Research is costly and time-consuming. The majority of the mitochondrial studies is carried out internationally and is financed by national and European funds. The application for grants is almost a fulltime job for some researchers, but is an essential part of the work. IMP will support applications whenever possible.

Research into mitochondrial disease covers many different fields and subjects. It varies from research into gene-defects, diagnostic methods, DNA structures, the addition of enzyme compounds, to the scientific studies into the inheritance of the disease. National patient organisations inform their members about any new development in this field. Naturally, IMP will be on the forefront of what is happening here.


Mitochondrial dysfunction is at the core of a surprising range of very common illnesses and conditions, and a promising new avenue for their treatment. As the mitochondria are responsible for producing energy, any illness that has an energy problem could be related to the mitochondria.

Diseases in which mitochondrial dysfunction have been implicated include:

  1. Alzheimer's Dementia, Parkinson's disease, Huntington Disease, Amyotrophic Lateral Sclerosis (ALS), mental retardation, deafness and blindness, diabetes, obesity, cardiovascular disease and stroke.
  2. Even autoimmune diseases such as multiple sclerosis, Sjogrens syndrome, lupus and rheumatoid arthritis appear to have a mitochondrial basis to illness. 

Mitochondrial dysfunction has been associated with a wide range of solid tumours, proposed to be central to the aging process, and found to be a common factor in the toxicity of a variety of physical and chemical agents. Until recently, the broad range of diseases that may be caused by mitochondrial dysfunction was not well understood or appreciated. A relationship between mitochondrial dysfunction and a wide range of disease states was known to exist, but whether mitochondrial dysfunction was responsible for the particular disease was still in question. This changed with the discovery that mutations of the mitochondrial DNA could cause certain diseases. For the first time, scientists showed that a single nucleotide change in mitochondrial DNA of a mouse led to the development of muscle weakness and progressive heart disease.


Research supporting the link between mitochondrial dysfunction and some of these other common illnesses includes:

  1. Mitochondrial coenzyme Q10 levels are reduced in patients with Parkinson's disease and mitochondrial function in these patients is impaired.
  2. Results of the first placebo-controlled clinical trial of the compound coenzyme Q10 suggest that it can slow down progression in patients with early-stage Parkinson's disease.
  3. These findings are consistent with another recent study involving patients with early onset Huntington's disease. These patients showed slightly less functional decline in groups receiving coQ10. Investigators believe coQ10 works by improving the function of the mitochondria.
  4. A drug once approved as an antihistamine in Russia improved thinking processes and the ability to function in Alzheimer's disease patients. The drug works by stabilizing mitochondria.
  5. Cancers are also associated with defects in the mitochondria. Within the cell, signaling must occur between the mitochondria and the nucleus. When the signaling malfunctions, the defect can cause cancer.
  6. Researchers discovered that mutations in the mitochondrial DNA may play a role in tumor metastasis and suggests a possible new avenue for the development of a treatment to suppress metastasis.
  7. Researchers have found a very consistent decline in mitochondrial function that is found in diabetes and and pre-diabetes.
  8. There is increasing interest in the possibility that mitochondrial dysfunction might play an important role in the etiology of autism. A subset of autistic children have already been shown to manifest biochemical alterations that are commonly associated with mitochondrial disorders, and a few have been linked to specific alterations in the mitochondrial genes.

It is clear that research into mitochondrial disease offers hope to the millions who are afflicted with these other common conditions and diseases.

Research is one of the important issues for any patient organisation to be informed about and, if so desired, to be involved in. IMP has been and still is building on its network with the leading researchers into mitochondrial disease in the world. And with success. IMP is meeting researchers on a regular basis. And the researchers now are finding their way to IMP. As a consequence there is a lively dialogue between researchers and IMP, where both parties truly understand that they need each other.

This dialogue makes it possible for IMP to be well informed about the latest research developments concerning mitochondrial disease from wherever in the world. This enables IMP to publish up-to-date information on its website.

Additionally researchers have found their way to IMP. The international community of mitochondrial specialists is very much aware of the importance of the patient’s perspective in their research studies.

Patient participation in clinical research is growing to be an essential part of studies and projects. Involving patients as partners in clinical research adds value to the content of the study. Simply because patients are the end users of the outcomes of studies. Patients ask different questions and have different expectations of a therapy or a cure.

Many authorities offering grants for clinical research make it mandatory that patient groups are involved in a study or at least are supporting it. In many cases patient groups play an active role in a study, such as in defining the outcome measures or in the discussion on the set up of a study or in disseminating the results of the study to the patient community.

IMP is receiving more and more requests from researchers to participate in or support a research study. In order to manage such requests in a professional manner, ensuring full understanding of the scientific content and making a thorough and patient-oriented judgement, IMP has officially established a Scientific Committee in April 2016.


Members of the Scientific Committee are:

  • Alison Maguire, biomedical degree Warwick University; UK, Head of Research of the Lily Foundation charity; active member of the MRC Mitochondrial Disease Patient Cohort Study Oversight Committee; an active member of the UK Mitochondrial Donation Working Group. Mother of daughter who lost her life to Leigh's Syndrome.
  • Julio Montoya, prof.dr., Department of Biochemistry, and Molecular and Cellular Biology, University of Zaragoza, Spain, active and strongly involved in AEPMI, the Spanish patient organisation for mitochondrial patients and families.
  • Paola Desideri, Chemical Biological Laboratory Technician; vice-president of Mitocon, the Italian patient organisation for mitochondrial patients and families. Mother of a daughter with Leigh's Syndrome.
  • Saskia Heffener, Master of Science Medical Biology (amongst others at the Radboud Centre for Mitochondrial Medicine), active within Spierziekten Nederland  and within several Facebook groups for mitochondrial patients. Mitochondral patient herself.

IMP does not, at this moment, fund any research studies.

Naturally, the required working procedures are in place. A few important ones are listed here:

  1. IMP reviews studies from a patient’s point of view (relevance for patients, answer to needs and questions of patients, adds to quality of life and health of patients, burden for patients involved in the trials, etc. etc. )
  2. All information provided to the Scientific Committee and to the board of IMP is considered to be confidential.
  3. The Scientific Committee advises the board of IMP, which takes the final decision and issues any official statements, if requested.
  4. In order to review the studies in a professional manner the Scientific Committee will need approximately 2 – 3 weeks. Therefore, any requests should be made timely.
  5. Requests to the Scientific Committee of IMP can be sent to: This email address is being protected from spambots. You need JavaScript enabled to view it.


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