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Deoxynucleoside therapy for respiratory involvement in adult patients with thymidine kinase 2-deficient myopathy

Ana Hernandez-Voth1,2, Javier Sayas Catalan3,2,4, Marta Corral Blanco3,2

  • 1Servicio de Neumología, Unidad de Ventilación Mecánica, Hospital Universitario 12 de Octubre, Madrid, Spain anarosario.hernandez@salud.madrid.org.

BMJ Open Respiratory Research
|November 28, 2020
PubMed
Abstract

Insights

Nucleosides therapy improved respiratory function in patients with thymidine kinase 2 (TK2) myopathy. This treatment helped patients breathe better and reduced their need for respiratory support.

Area of Science:

  • Mitochondrial diseases
  • Neuromuscular disorders
  • Respiratory medicine

Background:

  • Recessive mutations in the thymidine kinase 2 (TK2) gene cause a rare mitochondrial myopathy.
  • This condition often involves severe respiratory complications.
  • Deoxynucleoside therapy is an emerging treatment option.

Purpose of the Study:

  • To investigate the impact of nucleoside therapy on respiratory function in patients with TK2-deficient myopathy.
  • To assess changes in respiratory parameters following treatment with deoxycytidine and deoxythymidine.

Main Methods:

  • Retrospective observational study of six patients with TK2-deficient myopathy.
  • Treatment involved deoxycytidine and deoxythymidine.
  • Respiratory function was evaluated every 3-4 months over approximately 30 months, measuring FVC, MIP/MEP, SNIP, CPF, blood gas, and SpO2.

Main Results:

  • Patients presented with restrictive ventilatory patterns and severe respiratory muscle weakness.
  • Following nucleoside therapy, forced vital capacity (FVC) improved by 6%.
  • Nocturnal oxygen saturation (SpO2) improved, cough peak flow (CPF) increased by 23%, maximum expiratory pressure (MEP) increased by 73%, and respiratory infections diminished.

Conclusions:

  • Nucleoside therapy shows potential in improving respiratory function in TK2-deficient myopathy.
  • Early detection of respiratory involvement is crucial, even in asymptomatic individuals.
  • This therapy may stabilize respiratory capacity and improve overall respiratory health.
Keywords:
non invasive ventilationrare lung diseasesrespiratory muscles

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