Treatment options for Mitochondrial Genetic disorders

Currently there is no highly effective treatment or cure for mitochondrial disorder.

The management of mitochondrial disease includes

• Supportive therapy such as

       Exercise – including both endurance exercises (walking, running, swimming, dancing, cyclin etc.,)  and resistance/strength training (sit-ups, arm curls, knee extensions, weight lifting etc.,). These are done to increase muscle size and strength

       Vitamin or amino acid supplements– Coenzyme Q10; B complex vitamins, especially thiamine (B1) and riboflavin (B2) ;Alpha lipoic acid; L-carnitine ; Creatine ; and L-Arginine.

• Mitochondrial replacement therapies (MRT) in oocytes or zygotes such as pronuclear (PNT), spindle (ST) or polar body (PBT) transfer could prevent second generation transmission of mitochondrial DNA (mtDNA) defects.
• Preimplantation genetic diagnosis (PGD) is an IVF-based reproductive option.  PGD is suitable for some women with mtDNA disease who wish to conceive a genetically related child with a reduced risk of severe disease. The procedure involves the in vitro fertilization of oocytes harbouring pathogenic mtDNA mutations. These are either cultured and subjected to mutation  analysis. PGD allows specialists to provide a better prognosis of disease
• Mitochondrial Donation (MD) is a reproductive option . The procedure involves removing the nuclear DNA from an oocyte or zygote containing mutated mt DNA and transferring this to an enucleated oocyte or zygote that contains WT mt DNA from a healthy donor.
• Pronuclear transfer (PNT) involves removal of the pronuclei in a membrane-bound karyoplast from a fertilized zygote and transfer to an enucleated donor zygote.