PMID- 33396418
OWN - NLM
STAT- MEDLINE
DCOM- 20210723
LR  - 20210723
IS  - 2073-4425 (Electronic)
IS  - 2073-4425 (Linking)
VI  - 12
IP  - 1
DP  - 2020 Dec 31
TI  - Progressive External Ophthalmoplegia in Polish Patients-From Clinical Evaluation 
      to Genetic Confirmation.
LID - 10.3390/genes12010054 [doi]
LID - 54
AB  - Mitochondrial encephalomyopathies comprise a group of heterogeneous disorders 
      resulting from impaired oxidative phosphorylation (OxPhos). Among a variety of 
      symptoms progressive external ophthalmoplegia (PEO) seems to be the most common. 
      The aim of this study is to present clinical and genetic characteristics of 
      Polish patients with PEO. Clinical, electrophysiological, neuroradiological, and 
      morphological data of 84 patients were analyzed. Genetic studies of mitochondrial 
      DNA (mtDNA) were performed in all patients. Among nuclear DNA (nDNA) genes POLG 
      was sequenced in 41 patients, TWNK (C10orf2) in 13 patients, and RNASEH1 in 2 
      patients. Total of 27 patients were included in the chronic progressive external 
      ophthalmoplegia (CPEO) group, 24 in the CPEO+ group. Twenty-six patients had 
      mitochondrial encephalomyopathy (ME), six patients Kearns-Sayre syndrome (KSS), 
      and one patient sensory ataxic neuropathy, dysarthria, ophthalmoparesis (SANDO) 
      syndrome. Genetic analysis of nDNA genes revealed the presence of pathogenic or 
      possibly pathogenic variants in the POLG gene in nine patients, the TWNK gene in 
      five patients and the RNASEH1 gene in two patients. Detailed patients' history 
      and careful assessment of family history are essential in the diagnostic work-up. 
      Genetic studies of both mtDNA and nDNA are necessary for the final diagnosis of 
      progressive external ophthalmoplegia and for genetic counseling.
FAU - Kierdaszuk, Biruta
AU  - Kierdaszuk B
AUID- ORCID: 0000-0002-8072-2497
AD  - Department of Neurology, Medical University of Warsaw, Banacha 1a, 02-097 Warsaw, 
      Poland.
FAU - Kaliszewska, Magdalena
AU  - Kaliszewska M
AD  - Institute of Genetics and Biotechnology, Faculty of Biology, University of 
      Warsaw, Pawinskiego 5a, 02-106 Warsaw, Poland.
FAU - Rusecka, Joanna
AU  - Rusecka J
AD  - Institute of Genetics and Biotechnology, Faculty of Biology, University of 
      Warsaw, Pawinskiego 5a, 02-106 Warsaw, Poland.
FAU - Kosinska, Joanna
AU  - Kosinska J
AD  - Department of Medical Genetics, Medical University of Warsaw, Pawinskiego 3c, 
      02-106 Warsaw, Poland.
FAU - Bartnik, Ewa
AU  - Bartnik E
AUID- ORCID: 0000-0003-0489-7102
AD  - Institute of Genetics and Biotechnology, Faculty of Biology, University of 
      Warsaw, Pawinskiego 5a, 02-106 Warsaw, Poland.
FAU - Tonska, Katarzyna
AU  - Tonska K
AD  - Institute of Genetics and Biotechnology, Faculty of Biology, University of 
      Warsaw, Pawinskiego 5a, 02-106 Warsaw, Poland.
FAU - Kaminska, Anna M
AU  - Kaminska AM
AD  - Department of Neurology, Medical University of Warsaw, Banacha 1a, 02-097 Warsaw, 
      Poland.
FAU - Kostera-Pruszczyk, Anna
AU  - Kostera-Pruszczyk A
AD  - Department of Neurology, Medical University of Warsaw, Banacha 1a, 02-097 Warsaw, 
      Poland.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20201231
PL  - Switzerland
TA  - Genes (Basel)
JT  - Genes
JID - 101551097
RN  - 0 (DNA, Mitochondrial)
RN  - 0 (Mitochondrial Proteins)
RN  - EC 2.7.7.7 (DNA Polymerase gamma)
RN  - EC 2.7.7.7 (POLG protein, human)
RN  - EC 3.1.26.4 (Ribonuclease H)
RN  - EC 3.1.26.4 (ribonuclease HI)
RN  - EC 3.6.4.- (DNA Helicases)
RN  - EC 3.6.4.12 (TWNK protein, human)
RN  - Ataxia Neuropathy Spectrum
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Cerebellum/diagnostic imaging/metabolism/pathology
MH  - Cerebrum/diagnostic imaging/metabolism/pathology
MH  - Child
MH  - DNA Helicases/*genetics/metabolism
MH  - DNA Polymerase gamma/*genetics/metabolism
MH  - DNA, Mitochondrial/genetics/metabolism
MH  - Diagnosis, Differential
MH  - Female
MH  - Gene Expression
MH  - Humans
MH  - Kearns-Sayre Syndrome/diagnostic imaging/*genetics/metabolism/pathology
MH  - Male
MH  - Middle Aged
MH  - Mitochondria/metabolism/pathology
MH  - Mitochondrial Diseases/diagnostic imaging/*genetics/metabolism/pathology
MH  - Mitochondrial Encephalomyopathies/diagnostic 
      imaging/*genetics/metabolism/pathology
MH  - Mitochondrial Proteins/*genetics/metabolism
MH  - Muscle, Skeletal/metabolism/pathology
MH  - Ophthalmoplegia, Chronic Progressive External/diagnostic 
      imaging/*genetics/metabolism/pathology
MH  - Pedigree
MH  - Poland
MH  - Polymorphism, Genetic
MH  - Ribonuclease H/*genetics/metabolism
MH  - Sequence Deletion
PMC - PMC7824435
OTO - NOTNLM
OT  - POLG gene
OT  - RNASEH1 gene
OT  - TWNK gene
OT  - mitochondrial DNA deletions
OT  - mitochondrial disorders
OT  - multiple mitochondrial DNA deletions
OT  - muscle biopsy
OT  - progressive external ophthalmoplegia
COIS- The authors report no conflict of interest.
EDAT- 2021/01/06 06:00
MHDA- 2021/07/24 06:00
PMCR- 2020/12/31
CRDT- 2021/01/05 01:13
PHST- 2020/12/11 00:00 [received]
PHST- 2020/12/27 00:00 [revised]
PHST- 2020/12/28 00:00 [accepted]
PHST- 2021/01/05 01:13 [entrez]
PHST- 2021/01/06 06:00 [pubmed]
PHST- 2021/07/24 06:00 [medline]
PHST- 2020/12/31 00:00 [pmc-release]
AID - genes12010054 [pii]
AID - genes-12-00054 [pii]
AID - 10.3390/genes12010054 [doi]
PST - epublish
SO  - Genes (Basel). 2020 Dec 31;12(1):54. doi: 10.3390/genes12010054.