Diagnostics and prevention of nuclear-encoded mitochondrial diseases in infants
Abstract
The paper analyses recent publications on the clinical manifestations and diagnosis of mitochondrial diseases caused by defects in nuclear genes. A scientific analysis included about 100 genes. According to the encoded protein and its function, the author has identified 9 gene groups that affect the processes of cellular bioenergy. By the time of their manifestation, the diseases were divided into groups: those of early childhood (including neonatality), childhood, adolescence, and adulthood. Attention is drawn to difficulties to identify some forms of the diseases in view of the clinical polymorphism of manifestations of mutations in individual genes and, at the same tone, many similarities between clinical symptom complexes caused by different enzyme and gene defects. There are additional criteria for the differential diagnosis of the diseases: 3-methylglutaconic aciduria, depletions and multiple depletions of mitochondrial DNA. It is concluded that it is necessary to more extensively introduce the whole-exome sequencing test that can reveal not only common, but also rare gene mutations in nuclear DNA. Gene defect identification permits medical genetic counselling and prevention of the spread of severe pathology in the family.
About the Author
E. A. Nikolaeva
Research Clinical Institute of Pediatrics, Moscow
Russian Federation
Russian Federation
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Review
For citations:
Nikolaeva E.A. Diagnostics and prevention of nuclear-encoded mitochondrial diseases in infants. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2014;59(2):19-28. (In Russ.)
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