TY - JOUR
T1 - Complete mtDNA sequencing reveals mutations m.9185T>C and m.13513G>A in three patients with Leigh syndrome
AU - Pelnena, Dita
AU - Burnyte, Birute
AU - Jankevics, Eriks
AU - Lace, Baiba
AU - Dagyte, Evelina
AU - Grigalioniene, Kristina
AU - Utkus, Algirdas
AU - Krumina, Zita
AU - Rozentale, Jolanta
AU - Adomaitiene, Irina
AU - Stavusis, Janis
AU - Pliss, Liana
AU - Inashkina, Inna
N1 - Funding Information:
The study was supported by European Regional Development Fund (ERDF) grant 2010/0223/2DP/2.1.1.1.0/10/APIA/VIAA/025 ‘New tests for the diagnosis of inherited neuromuscular diseases’, and ERDF Grant 2014/0021/2DP/2.1.1.1.0/14/APIA/VIAA/058 ‘Development of novel in vitro tests for diagnostics and prognostics of individualized therapies of tumors and mitochondrial disease treatment’. The study was also supported by the Taiwan-Latvian-Lithuanian Collaboration Project ‘Functional model for the mitochondrial disease evaluation and biomarker development’.
Funding Information:
The study was supported by European Regional Development Fund (ERDF) grant 2010/0223/2DP/2.1.1.1.0/10/APIA/VIAA/025 ?New tests for the diagnosis of inherited neuromuscular diseases?, and ERDF Grant 2014/0021/2DP/2.1.1.1.0/14/APIA/VIAA/058 ?Development of novel in vitro tests for diagnostics and prognostics of individualized therapies of tumors and mitochondrial disease treatment?. The study was also supported by the Taiwan-Latvian-Lithuanian Collaboration Project ?Functional model for the mitochondrial disease evaluation and biomarker development?.
Publisher Copyright:
© 2017, © 2017 Informa UK Limited, trading as Taylor & Francis Group.
PY - 2018/10/3
Y1 - 2018/10/3
N2 - 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.
AB - 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.
KW - brain MRI
KW - Leigh syndrome
KW - mitochondrial DNA
UR - https://www.scopus.com/pages/publications/85037729100
U2 - 10.1080/24701394.2017.1413365
DO - 10.1080/24701394.2017.1413365
M3 - Article
C2 - 29228836
AN - SCOPUS:85037729100
SN - 2470-1394
VL - 29
SP - 1115
EP - 1120
JO - Mitochondrial DNA Part A: DNA Mapping, Sequencing, and Analysis
JF - Mitochondrial DNA Part A: DNA Mapping, Sequencing, and Analysis
IS - 7
ER -