Педиатрическая фармакология (May 2018)

Mitochondrial Complex V (ATP-synthase) Deficiency Nuclear Type 2, Caused by Mutation in the TMEM70 Gene: the First Case in Russia

  • Natal’ya V. Zhurkova,
  • Nato D. Vashakmadze,
  • Kirill V. Savost’anov,
  • Aleksandr A. Pushkov,
  • Artem M. Nesterov,
  • Leyla S. Namazova-Baranova

DOI
https://doi.org/10.15690/pf.v15i2.1874
Journal volume & issue
Vol. 15, no. 2
pp. 175 – 178

Abstract

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Mitochondrial respiratory chain complex V deficiency, type 2 is a rare hereditary disease developing due to mutations in TMEM70 (transmembrane protein 70) gene. Using massively parallel sequencing in patient with phenotype features, noncompaction of the left ventricular myocardium, and congenital heart disorder, we revealed mutations c.317-2A>G and c.578_579del in TMEM70 gene both in a heterozygous state. The mutations were confirmed by bi-directional automatic sequencing.

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