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Mitochondrial DNA Depletion Syndrome

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Sumreen Ch

on 17 May 2018

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Transcript of Mitochondrial DNA Depletion Syndrome

Inherited or Genetic Mutation?
What is MDS?
Mitochondrial DNA Depletion Syndrome

Mitochondrial DNA depletion syndrome also called MDS refers to a group of disorders which causes the affected tissues and organs to have a significant drop in their mitochondrial DNA counts. The DNA is found in the mitochondria of cells which is an organelle found in most cells in which respiration and energy production occur. This causes an impairment in the energy production in the affected areas.
This means, that people who are suffering from this syndrome do not get energy to their muscles, kidneys and brain and this syndrome affects tissue in the muscle, liver, or both the muscle and brain, respectively causing progressive muscle weakness and brain damage.
There are generally four classes of MDS and are common due to having lack of functioning DNA in the mitochondria:
Types of Mitochondrial
DNA depletion syndromes
a form called Myopathic MDS associated with mutations in the TK2 gene.

a form called Encephalomyopathic MDS associated with mutations in the genes SUCLA2, SUCLG1, or RRM2B.

a form called Hepatocerebral MDS associated with mutations in DGUOK, MPV17, POLG, or TWNK (also called PEO1).


a form called mitochondrial neuro-gastrointestinal encephalopathy (MNGIE) associated with mutations in ECGF1 (also called TYMP).
How common is mitochondrial
DNA depletion syndrome?
The condition is rare and has only been known about for about fifty years. MDS is almost always fatal in babies and young children, although some sufferers have made it into their teenage years.There have been no studies conducted to show how many people have the chance to inherit MDS or exactly how common it is.It has only been stated as a " very rare" syndrome.
Memory Loss
Hearing/visual problems
neurological problems
Muscle weakness
liver disease
failure to move
difficulty in breathing
persistent vomiting

Pyruvate Therapy: has shown improvement in muscle strength

Liver Transplant: benefit people with Hepatocerebral MDS

Nutritional Modulation: sufferers are provided a strict diet plan which can control some of the symptoms.

Co-factor supplements: given to prvide the
person with energy and prevent weakness.

Stem cell transplantation

Drugs/Pills: helps to reduce or control epilepsy.
There is no cure but the following treatments can be provided to manage symptoms:
Social Costs

There are not any specific costs, but those suffering from this syndrome -largely in young children- may need to take extra health precautions to ensure safety. The social costs of MDS are that the disease occurs so young in a child's life that they probably wont even be able to live after their first year. They don't get much of life to experience and neither do the parents of their kids.

Current Research
Nucleoside bypass therapy is an experimental treatment developed by Dr. Michio Hirano. This Nucleoside bypass therapy is designed to restore the normal number of deoxynucleotides in the mitochondria of cells
in patients with certain forms of mitochondrial DNA depletion syndrome. The treatment costs 2.5 million dollars per year for each person and so far it has only been tested on 1 person.
By: Sumreen and Jaseena
Full transcript