Progressive External Ophthalmoplegia in Polish Patients-From Clinical Evaluation to Genetic Confirmation.

Abstract

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.

• Authors: Biruta Kierdaszuk, Magdalena Kaliszewska, Joanna Rusecka, Joanna Kosińska, Ewa Bartnik, Katarzyna Tońska, Anna M Kamińska, Anna Kostera-Pruszczyk
• Journal: Genes (Genes (Basel)) Vol. 12 Issue 1 (12 31 2020) ISSN: 2073-4425 [Electronic] Switzerland
• PMID: 33396418 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• DNA, Mitochondrial
• Mitochondrial Proteins
• DNA Polymerase gamma
• POLG protein, human
• Ribonuclease H
• ribonuclease HI
• DNA Helicases
• TWNK protein, human

Topics

• Adolescent
• Adult
• Aged
• Cerebellum (diagnostic imaging, metabolism, pathology)
• Cerebrum (diagnostic imaging, metabolism, pathology)
• Child
• DNA Helicases (genetics, metabolism)
• DNA Polymerase gamma (genetics, metabolism)
• DNA, Mitochondrial (genetics, metabolism)
• Diagnosis, Differential
• Female
• Gene Expression
• Humans
• Kearns-Sayre Syndrome (diagnostic imaging, genetics, metabolism, pathology)
• Male
• Middle Aged
• Mitochondria (metabolism, pathology)
• Mitochondrial Diseases (diagnostic imaging, genetics, metabolism, pathology)
• Mitochondrial Encephalomyopathies (diagnostic imaging, genetics, metabolism, pathology)
• Mitochondrial Proteins (genetics, metabolism)
• Muscle, Skeletal (metabolism, pathology)
• Ophthalmoplegia, Chronic Progressive External (diagnostic imaging, genetics, metabolism, pathology)
• Pedigree
• Poland
• Polymorphism, Genetic
• Ribonuclease H (genetics, metabolism)
• Sequence Deletion