التفاصيل البيبلوغرافية
| العنوان: |
Complete mtDNA sequencing reveals mutations m.9185T>C and m.13513G>A in three patients with Leigh syndrome. |
| المؤلفون: |
Pelnena, Dita, Burnyte, Birute, Jankevics, Eriks, Lace, Baiba, Dagyte, Evelina, Grigalioniene, Kristina, Utkus, Algirdas, Krumina, Zita, Rozentale, Jolanta, Adomaitiene, Irina, Stavusis, Janis, Pliss, Liana, Inashkina, Inna |
| المصدر: |
Mitochondrial DNA. Part A; Oct2018, Vol. 29 Issue 7, p1115-1120, 6p, 2 Black and White Photographs |
| مصطلحات موضوعية: |
MITOCHONDRIAL DNA, NUCLEOTIDE sequencing, NEUROLOGICAL disorders, LACTIC acidosis, NEURODEGENERATION |
| مستخلص: |
The most common mitochondrial disorder in children is Leigh syndrome, which is a progressive and genetically heterogeneous neurodegenerative disorder caused by mutations in nuclear genes or mitochondrial DNA (mtDNA). In the present study, a novel and robust method of complete mtDNA sequencing, which allows amplification of the whole mitochondrial genome, was tested. Complete mtDNA sequencing was performed in a cohort of patients with suspected mitochondrial mutations. Patients from Latvia and Lithuania (n = 92 and n = 57, respectively) referred by clinical geneticists were included. The de novo point mutations m.9185T>C and m.13513G>A, respectively, were detected in two patients with lactic acidosis and neurodegenerative lesions. In one patient with neurodegenerative lesions, the mutation m.9185T>C was identified. These mutations are associated with Leigh syndrome. The present data suggest that full-length mtDNA sequencing is recommended as a supplement to nuclear gene testing and enzymatic assays to enhance mitochondrial disease diagnostics. [ABSTRACT FROM AUTHOR] |
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| قاعدة البيانات: |
Complementary Index |
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