Analysis of mitochondrial DNA in several generations of the same family: implications for the differential diagnosis of mitochondrial disease
https://doi.org/10.21508/1027-4065-2022-67-1-108-111
Abstract
Mitochondrial insufficiency does not always have vivid polysystemic manifestations that clinically reflect the dysfunction of these organelles. Diagnosis can be difficult both from a clinical and laboratory point of view. In this case, the authors describe a family with erased or not obvious corresponding clinical manifestations in 3 generations. Complete genomic assessment of mitochondrial DNA give enabled the authorsto identify inherited pathological changes. These findings are very important for understanding the molecular processes of mitochondrial disease development and the further development of specific therapy.
About the Authors
N. A. Litvinova
Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Moscow
V. S. Sukhorukov
Pirogov Russian National Research Medical University; Scientific Center of Neurology
Russian Federation
Russian Federation
Moscow
N. S. Ardashirova
Scientific Center of Neurology
Russian Federation
Russian Federation
Moscow
D. R. Akhmadullina
Scientific Center of Neurology
Russian Federation
Russian Federation
Moscow
T. I. Baranich
Pirogov Russian National Research Medical University; Scientific Center of Neurology
Russian Federation
Russian Federation
Moscow
References
1. Litvinova N.A., Suhorukov V.S., Nikolaeva E.A., Artem’eva S.B., Voronkova A.S., Shherbo S.N. Genetic variations of mitochondrial DNA in absence of hypoxic deficiency signs. Meditsinskii alfavit 2018; 2(31): 45–49. (in Russ.)
2. Suhorukhov V.S., Voronkova A.S., Litvinova N.A., Baranich T.I., Illarioshkin S.N. The Role of Mitochondrial DNA Individuality in the Parkinson’s Disease Pathogenesis. Genetika 2020; 56(4): 392–400. (in Russ.)
3. Albring M., Griffith J., Attardi G. Association of a protein structure of probable membrane derivation with HeLa cell mitochondrial DNA near its origin of replication Proceedings of the National Academy of Sciences of the United States of America. Proc Natl Acad Sci USA 1977; 74 (4): 1348–1352.
4. Anderson S., Bankier A.T., Barrell B.G., de Bruijn M.H., Coulson A.R., Drouin J. et al. Sequence and organization of the human mitochondrial genome. Nature 1981; 290 (5806): 457–465
5. Menger K.E., Rodríguez-Luis A., Chapman J., Nicholls T.J. Controlling the topology of mammalian mitochondrial DNA. Open Biol 2021;11(9):210168. DOI: 10.1098/rsob.210168
Review
For citations:
Litvinova N.A., Sukhorukov V.S., Ardashirova N.S., Akhmadullina D.R., Baranich T.I. Analysis of mitochondrial DNA in several generations of the same family: implications for the differential diagnosis of mitochondrial disease. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2022;67(1):108-111. (In Russ.) https://doi.org/10.21508/1027-4065-2022-67-1-108-111
Views:
495
Email this article 