Két generációban megfigyelheto mitokondriális DNS A8344G mutáció

Translated title of the contribution: A8344g mitochondrial DNA mutation observed in two generations

Fekete Anett, Hadzsiev Kinga, J. Bene, Nászai Antónia, Mátyás Petra, Till Ágnes, B. Melegh

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

This article presents the case of a 62-year-old mother and her 41-year-old daughter, who have had severe neurological symptoms for a few decades. After a long investigation period the definite diagnosis of MERRF syndrome was confirmed. After DNA isolation from our patient's blood sample we examined the mitochondrial DNA with direct sequencing. An adenine-guanine substitution was detected in the tRNA gene at position 8344, based on the sequence ferogram the heteroplasmy was over 90%. The clinical phenotype was not clearly characteristic for MERRF syndrome, adult-onset and lipomas are not typical in this disease. In our case report we would like to draw attention to the great phenotypic variation of the mitochondrial diseases and we emphasize that these disorders are underdiagnosed in Hungary even today.

Original languageHungarian
Pages (from-to)468-471
Number of pages4
JournalOrvosi Hetilap
Volume158
Issue number12
DOIs
Publication statusPublished - Mar 1 2017

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MERRF Syndrome
Mitochondrial DNA
Patient Isolation
Mitochondrial Diseases
Mutation
Gene Order
Hungary
Lipoma
Guanine
Adenine
Transfer RNA
Phenotype
DNA

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Két generációban megfigyelheto mitokondriális DNS A8344G mutáció. / Anett, Fekete; Kinga, Hadzsiev; Bene, J.; Antónia, Nászai; Petra, Mátyás; Ágnes, Till; Melegh, B.

In: Orvosi Hetilap, Vol. 158, No. 12, 01.03.2017, p. 468-471.

Research output: Contribution to journalArticle

Anett, F, Kinga, H, Bene, J, Antónia, N, Petra, M, Ágnes, T & Melegh, B 2017, 'Két generációban megfigyelheto mitokondriális DNS A8344G mutáció', Orvosi Hetilap, vol. 158, no. 12, pp. 468-471. https://doi.org/10.1556/650.2017.30634
Anett F, Kinga H, Bene J, Antónia N, Petra M, Ágnes T et al. Két generációban megfigyelheto mitokondriális DNS A8344G mutáció. Orvosi Hetilap. 2017 Mar 1;158(12):468-471. https://doi.org/10.1556/650.2017.30634
Anett, Fekete ; Kinga, Hadzsiev ; Bene, J. ; Antónia, Nászai ; Petra, Mátyás ; Ágnes, Till ; Melegh, B. / Két generációban megfigyelheto mitokondriális DNS A8344G mutáció. In: Orvosi Hetilap. 2017 ; Vol. 158, No. 12. pp. 468-471.
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