I this moment the treatment of mitochondrial diseases is consisted only by giving the patient suportive treatment such as:
-tracheostoma which alows the patient to breath easily, also with tracheostoma the patient can be conected to a respirator and provide artifitial breathing
-PEG or button,this is a tube that is inserted in the ventricul or duodenum or both, this provides adequate feeding,which is very important for mitochondrial diseases because with not sufficient feeding the body can go in cathabolism state which means that it will start degradation of  proteins to provide enough glucose, and in mitochondrial disease it can only worsen the forming of free radical and other molecules that can harm the mitochondria
-oxygen supply
-pacemakers, when this disease affects the heart conduction can be efficient
-medical devices like therapy chairs, verticalizators and other helpful devices to prevent muscle contractures and stiffening, also provides better muscle tone 

There are also medications like vitamins and supplements that are in fact the co-factors in mitochondria for energy production,we need ATP for energy and all the different defects in the mitochondria can lead to impairment of this energy production and leading to cell death by accumulating toxic substances that are not metabolized.
For this matter and other aspects in treatment such as providing anabolism state all the time, giving sufficient fluids and food and avoiding oxidative stress like infections, long trips, medical procedures and other stressful things, at the moment i can give you the following study

It's very important also to practice, to work your muscles, they will provide more energy, the muscle will produce new mitochondria if the genetic defect is in the nuclear DNA, but also if the mutation is mitochondrial this physical activity will make the healthy mitochondrions to produce more ATP, as you now this molecul is the end product in all energy producing cicles and without it live is not possible.
Here are some useful advices how to work out with mitochondrial diseases

Nobody can avoid infections, especially children, but try to keep them out of the harm's way  as much as you can, also, react fast when your children is dehydrated from vomiting, diarrea, try to rehidrate them oraly, if that doesn't work after couple of hours, take them to the hospital, this kids can not aford to be dehidrated so long, also when they dont get enough food there is a possibility that metabolism can switch to a different mode of energy production caled cathabolism,but with their mutations in providing energy this will cause more problems, so it can lead to cell death, then the kids will not recover like other kids, this cell death will happen where the energy need is at most-the brain!

Brain cells are having protection layer around them caled myelin, and when this layer is damaged the cell stays naked without protection and can not process all the impulses that we need for motor function, there is no way to make new myelin at this point, the only way to save it is to PRESERVE it!
This cell death hapens in diferent brain areas,but the most common parts are the basal ganglia, brain stem, middle brain and cerebelum(little brain), so the symtoms of the disease will be dependent of which area of the brain is affected.The most important part is the brain stem, he is responsible for vital functions like breathing, heart rate, regulation of blood gases and acidity, temprature regulation, vegetative functions, motor functions and a lot of other very important regulations. This kids have very often brain stem damage, and this can lead to serious complications, but the most important is breathing!!!To have adequate breathing and blood gases regulation like O2 intake and CO2 elimination,sometimes there is a need of medical intervention like tracheostoma or breathing with mask, then the regulation of this air exchange will be made by breathing machine, this is important to save one child's life.
The therapy consistet of giving the child cofactors and antioxidants can be helpful only if the supstances that are suportive to the mitochondria, or antioxidants to safe the cell from death, can reach the brain!
For this they must pass trough blood-brain barrier, which is consisted of entire network of small blood vessels,big enough to let only the smalest molecules to get in the brain.
That means if your doctor prescribes you coenzim Q10(Ubiquinone), which is the most comon cofactor and antioxidant that is used in mitochondrial diseases, and you need that to get to the brain, ask him, can that pass the blood-brain barrier? No, it has a long chain and almost nothing comes to the brain, that's why is very important do give adequate forms of coenzim Q10 like sintethic form IDEBENONE or other soluble and absorbable form like UBIQUINOLE.

1 comment:

  1. Hello.

    My son of 22 months has just been diagnosed with Leighs syndrome. we live in Denmark, Copenhagen and the doctors have said there is nothing they can do for him other than the usual vitamiun b1 and b2.

    He has been on a respirator for nearly 3 weeks. they have attempted to take him off two times but he is struggling to breath on his own or swallow. i have read some if not all of your blogs. the EPI 743 has given us a hope. however i am having great problems trying to get in touch with people or find a hospital/physician ready to take on EPI 743.

    PLEASE PLEASE! can you help us

    Email me on