Diagnostics and prevention of nuclear-encoded mitochondrial diseases in infants
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...
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| Format: | Article |
| Language: | Russian |
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Ltd. “The National Academy of Pediatric Science and Innovation”
2016-03-01
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| Series: | Rossijskij Vestnik Perinatologii i Pediatrii |
| Subjects: | |
| Online Access: | https://www.ped-perinatology.ru/jour/article/view/199 |
| _version_ | 1797875306200039424 |
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| author | E. A. Nikolaeva |
| author_facet | E. A. Nikolaeva |
| author_sort | E. A. Nikolaeva |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-10T01:45:32Z |
| format | Article |
| id | doaj.art-5f67df87b6034f41950eaf73d81d65e3 |
| institution | Directory Open Access Journal |
| issn | 1027-4065 2500-2228 |
| language | Russian |
| last_indexed | 2024-04-10T01:45:32Z |
| publishDate | 2016-03-01 |
| publisher | Ltd. “The National Academy of Pediatric Science and Innovation” |
| record_format | Article |
| series | Rossijskij Vestnik Perinatologii i Pediatrii |
| spelling | doaj.art-5f67df87b6034f41950eaf73d81d65e32023-03-13T09:12:41ZrusLtd. “The National Academy of Pediatric Science and Innovation”Rossijskij Vestnik Perinatologii i Pediatrii1027-40652500-22282016-03-015921928192Diagnostics and prevention of nuclear-encoded mitochondrial diseases in infantsE. A. Nikolaeva0Научно-исследовательский клинический институт педиатрии, МоскваThe 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.https://www.ped-perinatology.ru/jour/article/view/199детимитохондриальные заболеваниясимптомыядерная днкмитохондриальная днкдеплециямножественные делеции3-метилглутаконовая ацидуриядиагностикаполное экзомное секвенирование. |
| spellingShingle | E. A. Nikolaeva Diagnostics and prevention of nuclear-encoded mitochondrial diseases in infants Rossijskij Vestnik Perinatologii i Pediatrii дети митохондриальные заболевания симптомы ядерная днк митохондриальная днк деплеция множественные делеции 3-метилглутаконовая ацидурия диагностика полное экзомное секвенирование. |
| title | Diagnostics and prevention of nuclear-encoded mitochondrial diseases in infants |
| title_full | Diagnostics and prevention of nuclear-encoded mitochondrial diseases in infants |
| title_fullStr | Diagnostics and prevention of nuclear-encoded mitochondrial diseases in infants |
| title_full_unstemmed | Diagnostics and prevention of nuclear-encoded mitochondrial diseases in infants |
| title_short | Diagnostics and prevention of nuclear-encoded mitochondrial diseases in infants |
| title_sort | diagnostics and prevention of nuclear encoded mitochondrial diseases in infants |
| topic | дети митохондриальные заболевания симптомы ядерная днк митохондриальная днк деплеция множественные делеции 3-метилглутаконовая ацидурия диагностика полное экзомное секвенирование. |
| url | https://www.ped-perinatology.ru/jour/article/view/199 |
| work_keys_str_mv | AT eanikolaeva diagnosticsandpreventionofnuclearencodedmitochondrialdiseasesininfants |