AEPMI (Asociación de Enfermos de Patologías Mitocondriales)

El ánimo es la más sana medicina


Imagen de médicos All treatments tested currently provide little benefit to improve mitochondrial dysfunction.

Mitochondrial diseases can be expressed in very different ways, affecting any tissue, any organ and at any time of life. There are no large series of patients with the same molecular defect and the same clinical studies to allow conclusive about the effectiveness of various drugs applied in the treatment.

The treatments have been found useful only in a limited number of patients, whereas the vast majority of them are limited therapeutic measures to be supportive.

The treatment of mitochondrial diseases is necessarily multidisciplinary assessment and treatment of cardiac abnormalities, sensory, endocrine, orthopedic, and so on.Grouping the treatment of these diseases in the following sections:

  • Specific pharmacological therapy. You can alleviate the effects of these diseases through drug therapy. The following drugs are commonly used in mitochondrial diseases Carnitine, Coenzyme Q, dichloroacetate, carnitine monohydrate, Prednisone, Riboflavin, Vitamin C, Vitamin E, Vitamin K3.
  • Preimplantation genetic therapy. Nuclear transplantation of ova in vitro, in vitro fertilization of egg donation. Techniques are performed preimplantation genetic mothers carrying mutations in mtDNA. They consist of a transplant the nucleus of a donor oocyte and then doing in vitro fertilization with sperm father.
  • Maintenance therapy. It should have a number of general care in controlling the progression of these patients according to the organ affected. It is considered appropriate to follow a rehabilitation treatment and physiotherapy. In some cases it is also recommended to receive therapy speech therapist.
  • Psychological treatment. In certain cases and families is recommended counseling and psychiatric sometimes.

Drugs with risk of mitochondrial toxicity

  • Antibiotics: tetracycline, ciprofloxacin, aminoglycosides (in patients with the A1555G mutation).
  • Antivirals: Azydothymidina (AZT). Fialuridine and drugs that deplete the mtDNA depletion in patients with the same.
  • Anticonvulsants: valporato especially sodium, which inhibits oxidative phosphorylation and affects the oxidation of fatty acids. Should also be avoided barbiturates and hydantoins.
  • Anesthetics: You must avoid the administration of etomidate and thiopentone in the Kearns-Sayre syndrome. In patients with mitochondrial disease should take into account the great sensitivity antracurium and roncuronium. Some authors have reported complications with the use of fentanyl and thiopental. Patients with mitochondrial impairment are at increased risk of respiratory failure in the postoperative surgical partly due to increased production of cytokines and the consequent formation of nitric oxide in large quantities that affect energy production. It is advisable wherever possible the use of epidural anesthesia. You should also avoid chronic hypoxia, which can cause irreversible anesthesia.
Asociación de Enfermos de Patologías Mitocondriales
C/ Manuel Tovar 3, entreplanta, 28034, Madrid
Tlfno.: 618789068
Correo e:
Estatutos de AEPMI

Asesor de enfermedades mitocondriales y
miembro del Comité Científico Asesor

Prof. Julio Montoya Villaroya
Departamento de Bioquimica y Biologia Molecular y Celular
Universidad de Zaragoza