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Yonsei Med J 2018 Dec;59(10):1190-1196

Department of Pediatrics, Gangnam Severance Hospital, Severance Children's Hospital, Yonsei University College of Medicine, Seoul, Korea.

Purpose: To evaluate the classification, diagnosis, and natural course of ophthalmoplegia associated with mitochondrial disease.

Materials And Methods: Among 372 patients with mitochondrial disease who visited our hospital between January 2006 and January 2016, 21 patients with ophthalmoplegia were retrospectively identified. Inclusion criteria included onset before 20 years of age, pigmentary retinopathy, and cardiac involvement. Read More

Can J Ophthalmol 2018 Oct 17;53(5):e203-e205. Epub 2018 Feb 17.

Northampton General Hospital NHS Trust, Northampton, United Kingdom.

Fortschr Neurol Psychiatr 2018 Sep 24;86(9):584-591. Epub 2018 Sep 24.

Ludwig-Maximilians-Universität München, Friedrich- Baur-Institut der Neurologischen Klinik.

Mitochondrial diseases (MD) represent a heterogenous group of disorders and syndromes caused either by mutations of the mitochondrial DNA (mtDNA) or the nuclear DNA (nDNA). They belong to the most frequent neurogenetic diseases. The spectrum of clinical manifestations is very broad ranging from mild subclinical presentations to rapidly progressive debilitating conditions with reduced life expectancy. Read More

Top Magn Reson Imaging 2018 Aug;27(4):219-240

Department of Radiology, University of Pittsburgh School of Medicine, Director of Pediatric Neuroradiology, Children Hospital of Pittsburgh, Pittsburgh, PA.

Mitochondrial diseases are a complex and heterogeneous group of genetic disorders that occur as a result of either nuclear DNA or mitochondrial DNA pathogenic variants, leading to a decrease in oxidative phosphorylation and cellular energy (ATP) production. Increasing knowledge about molecular, biochemical, and genetic abnormalities related to mitochondrial dysfunction has expanded the neuroimaging phenotypes of mitochondrial disorders. As a consequence of this growing field, the imaging recognition patterns of mitochondrial cytopathies are continually evolving. Read More

Essays Biochem 2018 07 20;62(3):235-254. Epub 2018 Jul 20.

IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy.

The landmark year 1988 can be considered as the birthdate of mitochondrial medicine, when the first pathogenic mutations affecting mtDNA were associated with human diseases. Three decades later, the field still expands and we are not 'scraping the bottom of the barrel' yet. Despite the tremendous progress in terms of molecular characterization and genotype/phenotype correlations, for the vast majority of cases we still lack a deep understanding of the pathogenesis, good models to study, and effective therapeutic options. Read More

Mol Psychiatry 2018 Oct 11;23(10):2039-2049. Epub 2018 Jun 11.

Laboratory for Molecular Dynamics of Mental Disorders, RIKEN Center for Brain Science, Wako, Saitama, Japan.

Although mitochondrial and serotonergic dysfunctions have been implicated in the etiology of bipolar disorder (BD), the relationship between these unrelated pathways has not been elucidated. A family of BD and chronic progressive external ophthalmoplegia (CPEO) caused by a mutation of the mitochondrial adenine nucleotide translocator 1 (ANT1, SLC25A4) implicated that ANT1 mutations confer a risk of BD. Here, we sequenced ANT1 in 324 probands of NIMH bipolar disorder pedigrees and identified two BD patients carrying heterozygous loss-of-function mutations. Read More

BMC Neurol 2018 May 29;18(1):75. Epub 2018 May 29.

Department of Neurology, Taichung Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Taichung, Taiwan.

Background: Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare autosomal recessive congenital anomaly characterized by horizontal gaze limitation and progressive scoliosis. We investigated the underlying pathogenesis by incorporating diffusion tensor imaging and an electrophysiological study.

Case Presentation: A 55-year-old female patient presented to our clinic due to a chronic history of eye movement limitation since childhood. Read More

Int Ophthalmol 2018 Mar 26. Epub 2018 Mar 26.

Strabismus Service, First Department of Ophthalmology, National and Kapodistrian University of Athens School of Medicine, 32 Socratous Street, Voula, 16673, Athens, Greece.

Background: To report midterm outcomes of strabismus strategy for management of diplopia in chronic progressive external ophthalmoplegia and specific surgical planning rationale.

Design: Retrospective interventional case series.

Results: Two patients, a 26-year-old male and a 36-year-old female, diagnosed with chronic progressive external ophthalmoplegia presented with blepharoptosis and intermittent diplopia. Read More

Neuromuscul Disord 2018 May 21;28(5):408-413. Epub 2018 Feb 21.

Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.

Muscle dysfunction in mitochondrial myopathy is predominantly caused by insufficient generation of energy. We hypothesise that structural changes in muscles could also contribute to their pathophysiology. The aims of this study were to determine fat fractions and strength in selected muscles in patients with chronic progressive external ophthalmoplegia (CPEO), and compare progression of muscle fat fraction with age in individuals with CPEO vs. Read More

Clin Chim Acta 2018 Jun 10;481:156-160. Epub 2018 Mar 10.

Division of Metabolism and Research Unit of Metabolic Biochemistry, Bambino Gesù Children's Hospital, IRCCS (Institute for Treatment and Research), Viale di S. Paolo 15, 00146 Rome, Italy.

Single large-scale mitochondrial DNA deletions disorders are classified into three main phenotypes with frequent clinical overlap: Pearson marrow-pancreas syndrome (PMS), Kearns-Sayre syndrome (KSS) and chronic progressive external ophtalmoplegia (PEO). So far, only few anecdotal studies have reported on the urinary organic acids profile in this disease class. In this single-center retrospective study, we performed quantitative evaluation of urinary organic acids in a series of 15 pediatric patients, 7 with PMS and 8 with KSS. Read More

Pediatr Med Chir 2017 Dec 15;39(4):169. Epub 2017 Dec 15.

Department of Neurosciences, Ophthalmology, Rehabilitation, Genetics, and Mother-Child Sciences, University of Genoa, Genoa.

The Authors report on a patient with Kearns-Sayre syndrome, large mtDNA deletion (7/kb), facial abnormalities and severe central nervous system (CNS) white matter radiological features, commonly attributed to spongy alterations. The common origin from neural crest cell (NCC) of facial structures (cartilagineous, osseous, vascular and of the peripheral nervous system) and of peripheral glia and partially of the CNS white matter are underlined and the facial and glial abnormalities are attributed to the abnormal reproduction/migration of NCC. In this view, the CNS spongy alterations in KSS may be not only a dystrophic process (leukodystrophy) but also a dysplastic condition (leukodysplasia). Read More

Klin Monbl Augenheilkd 2018 Feb 15;235(2):157-162. Epub 2018 Feb 15.

Augenheilkunde, Universität Basel, Schweiz.

Mitochondrial function is closely linked to numerous aspects of eye health. Imbalance between the creation of energy and the development of reactive oxygen species (ROS) seems to be the cause of the development of mitochondrial dysfunctions. As a result of this energy deficit, the level of oxidative stress in the eye tissues increases, leading to numerous ophthalmic impairments. Read More

Saudi J Anaesth 2018 Jan-Mar;12(1):134-138

Department of Anesthesiology, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia.

Kearns-Sayre syndrome (KSS), a rare form of mitochondrial myopathy, is a triad of chronic progressive external ophthalmoplegia, bilateral pigmentary retinopathy, and cardiac conduction abnormalities. In this report, we show how a combined spinal epidural anesthesia can be useful for cesarean delivery, as we illustrate in a dual-chamber and VVI implantable defibrillator pacemaker/defibrillator parturient with a KSS and preeclampsia. Read More

Neuromuscul Disord 2018 Apr 23;28(4):350-360. Epub 2017 Nov 23.

FMUC - Faculty of Medicine, University of Coimbra, Coimbra, Portugal; CNC - Center for Neuroscience and Cell Biology, Laboratory of Biochemical Genetics, University of Coimbra, Coimbra, Portugal. Electronic address:

Chronic Progressive External Ophthalmoplegia (CPEO) is characterized by ptosis and ophthalmoplegia and is usually caused by mitochondrial DNA (mtDNA) deletions or mt-tRNA mutations. The aim of the present work was to clarify the genetic defect in a patient presenting with CPEO and elucidate the underlying pathogenic mechanism. This 62-year-old female first developed ptosis of the right eye at the age of 12 and subsequently the left eye at 45 years, and was found to have external ophthalmoplegia at the age of 55 years. Read More

Klin Monbl Augenheilkd 2018 Jan 26;235(1):31-33. Epub 2018 Jan 26.

Ophthalmoplastische Chirurgie, Augenlidklinik, München.

Ptosis is often the first symptom of chronic progressive external ophthalmoplegia (CPEO), a rare muscle disorder. As the disease progresses, it can lead to ocular motility defects. Ptosis is present in the early stages of the disease and can be corrected by levator surgery. Read More

Orbit 2018 Oct 15;37(5):385-388. Epub 2018 Jan 15.

a Birmingham Midland Eye Centre , Sandwell and West Birmingham Hospitals NHS Trust , Birmingham , UK.

Methods: We present a rare case with atypical presenting features of unilateral CPEO with a false positive Acetylcholine Receptor Antibody (AchRA) test resulting in diagnostic delay. We illustrate the unilateral nature of this case and demonstrate the caveats of performing myogenic ptosis correction in such patients. We also discuss the differential diagnosis of false positive AchRA, a test commonly performed in the investigation of ptosis. Read More

Medicine (Baltimore) 2017 Dec;96(48):e8869

Department of Neurology, Affiliated Hospital of Jining Medical College, Jining, Shandong, People's Republic of China.

Rationale: Chronic progressive external ophthalmoplegia (CPEO) is a classical mitochondrial ocular disorder characterized by bilateral progressive ptosis and ophthalmoplegia. Kearns -Sayre syndrome (KSS) is a multisystem disorder with PEO, cardiac conduction block, and pigmentary retinopathy. A few individuals with CPEO have other manifestations of KSS, but do not meet all the clinical diagnosis criteria, and this is called "CPEO plus. Read More

Orbit 2018 Oct 4;37(5):371-374. Epub 2018 Jan 4.

a Department of Oculoplastics and Orbital Surgery, Bristol Eye Hospital , Bristol , UK.

Intracranial hypotension (ICH) is characterized by low cerebrospinal fluid pressure, postural headaches, and diffuse pachymeningeal enhancement on magnetic resonance imaging (MRI). A variety of ophthalmoparetic manifestations have been reported in the context of the ICH. The authors describe an unusual case of a 64-year-old woman who presented with rapid onset of headaches, bilateral upper-lid ptosis, and blurring of vision within 4 days after sustaining a trivial head injury. Read More

Mol Cell 2018 01 28;69(1):9-23.e6. Epub 2017 Dec 28.

Department of Medical Biochemistry and Cell Biology, University of Gothenburg, P.O. Box 440, 405 30 Gothenburg, Sweden. Electronic address:

How mtDNA replication is terminated and the newly formed genomes are separated remain unknown. We here demonstrate that the mitochondrial isoform of topoisomerase 3α (Top3α) fulfills this function, acting independently of its nuclear role as a component of the Holliday junction-resolving BLM-Top3α-RMI1-RMI2 (BTR) complex. Our data indicate that mtDNA replication termination occurs via a hemicatenane formed at the origin of H-strand replication and that Top3α is essential for resolving this structure. Read More

Clin Neurol Neurosurg 2018 01 9;164:182-189. Epub 2017 Dec 9.

Dept. of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India; Neuromuscular lab-Neurobiology Research Centre, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India. Electronic address:

Objectives: Studies exploring the outcome of epilepsy in patients with mitochondrial disorders are limited. This study examined the outcome of epilepsy in patients with mitochondrial disorders and its relation with the clinical phenotype, genotype and magnetic resonance imaging findings.

Patients And Methods: The cohort was derived from the database of 67 patients with definite genetic diagnosis of mitochondrial disorders evaluated over a period of 11years (2006-2016). Read More

Mitochondrion 2017 Dec 12. Epub 2017 Dec 12.

McMaster University Medical Centre, Hamilton, ON, Canada. Electronic address:

Chronic progressive external ophthalmoplegia (CPEO) is a common mitochondrial disease. We evaluated the impact of sex and smoking status upon knee extension strength and the phenotypic spectrum of disease in a large cohort of adult-onset CPEO patients (N=116) using retrospective chart analysis. The CPEO patients showed significantly lower knee extension strength as compared to the age- and sex-matched control population (-37%, P<0. Read More

Neuropediatrics 2018 Aug 14;49(4):231-237. Epub 2017 Dec 14.

University of Tunis El Manar and Genomics Platform, Pasteur Institute of Tunis, Tunisia.

Objectives:  Genotype and phenotype of mutation have become increasingly heterogeneous. This review aims at summarizing recent advances concerning the genotypic and phenotypic variability of mutations.

Method:  The review evaluated clinical and instrumental data of 82 patients carrying a mutation in the gene reported in 18 publications with regard to onset, frequency, and type of clinical manifestations and genetic findings. Read More

Nephron 2018 30;138(3):243-248. Epub 2017 Nov 30.

Division of Nephrology, Endocrinology, and Vascular Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan.

Focal segmental glomerulosclerosis (FSGS) is caused by various etiologies, with mitochondrial dysfunction being one of the causes. FSGS is known to be associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), which is a subclass of mitochondrial disease. However, it has rarely been reported in other mitochondrial disease subclasses. Read More

J Pediatr Ophthalmol Strabismus 2017 Nov 17;54:e83-e87. Epub 2017 Nov 17.

The authors describe three examples of "pulled in two syndrome" (PITS) from a series of 13 patients undergoing strabismus surgery with underlying chronic progressive external ophthalmoplegia (CPEO) and illustrate techniques for recovery of the "pulled in two" extraocular muscle should the complication arise. In all cases, a rectus muscle snapped under minimal tension while held on a strabismus hook during strabismus surgery. Two patients suffered from CPEO as a result of genetic mitochondrial disease, whereas one resulted from presumed mitochondrial toxicity induced by HAART. Read More

Andrologia 2017 12;49(10)

Genomics Platform, Pasteur Institute of Tunis, Tunis, Tunisia.

Biol Psychiatry 2018 May 21;83(9):731-738. Epub 2017 Sep 21.

Laboratory for Molecular Dynamics of Mental Disorders, RIKEN Brain Science Institute, Wako-shi, Saitama, Japan. Electronic address:

Variants in mitochondrial DNA (mtDNA) and nuclear genes encoding mitochondrial proteins in bipolar disorder, depression, or other psychiatric disorders have been studied for decades, since mitochondrial dysfunction was first suggested in the brains of patients with these diseases. Candidate gene association studies initially resulted in findings compatible with the mitochondrial dysfunction hypothesis. Many of those studies, however, were conducted with modest sample sizes (N < 1000), which could cause false positive findings. Read More

Orbit 2018 Jun 20;37(3):201-207. Epub 2017 Oct 20.

a Department of Oculoplastics and Orbit , Athens Eye Hospital , Glyfada , Greece.

Purpose: To present the management of three patients suffering from ptosis of various etiologies, with scleral contact lenses.

Material And Methods: Three patients (five eyes) with ptosis resulting from levator dehiscence due to long-term rigid gas permeable contact lens wear for keratoconus, phthisis bulbi, and myopathy due to Kearns-Sayre syndrome were identified during a 2-year period. They were fitted with scleral contact lenses in order to provide cosmesis by lifting the upper eyelid with the bulk of the lens, and simultaneously provide vision correction where applicable. Read More

BMC Musculoskelet Disord 2017 Oct 19;18(1):419. Epub 2017 Oct 19.

Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.

Background: Pure exercise intolerance associated with exclusive affection of skeletal muscle is a very rare phenotype of patients with mitochondrial myopathy. Moreover, the exercise intolerance in these rare patients is yet not well explored, as most of known cases have not been assessed by objective testing, but only by interview. We report a patient with a mitochondrial DNA (mtDNA) mutation that gives rise to an exclusive myopathy associated with exercise intolerance and ophthalmoplegia. Read More

Taiwan J Ophthalmol 2017 Jul-Sep;7(3):143-148

Department of Orbit, Oculoplasty, Reconstructive and Aesthetic Services, Sankara Nethralaya Medical Research Foundation, Chennai, Tamil Nadu, India.

Purpose: The purpose of the study was to evaluate the efficacy of silicone rods as frontalis sling for correction of ptosis associated with poor Bell's phenomenon in specific situations.

Materials And Methods: A retrospective interventional case series of 25 eyes of 19 patients who underwent frontalis suspension surgery with silicone rods for ptosis correction from May 2006 to April 2011, was performed. Inclusion criteria included severe ptosis with poor Bell's phenomenon. Read More

Clin Neurophysiol 2017 10 31;128(10):2098. Epub 2017 Jul 31.

Fondation Ophtalmologique A. de Rothschild, Department of Neurology, 25 Rue Manin, Paris, France.

Einstein (Sao Paulo) 2017 Oct-Dec;15(4):512-513. Epub 2017 Aug 17.

Hospital Beneficência Portuguesa, São Paulo, SP, Brasil.

J Clin Med 2017 Aug 21;6(8). Epub 2017 Aug 21.

Nuffield Department of Obstetrics and Gynaecology, University of Oxford, Oxford OX3 9DU, UK.

Recent work has suggested that fibroblast growth factor-21 (FGF-21) is a useful biomarker of mitochondrial disease (MD). We routinely measured FGF-21 levels on patients who were investigated at our centre for MD and evaluated its diagnostic performance based on detailed genetic and other laboratory findings. Patients' FGF-21 results were assessed by the use of age-adjusted -scores based on normalised FGF-21 values from a healthy population. Read More

Clin Neurophysiol 2017 10 31;128(10):2096-2097. Epub 2017 Jul 31.

University of Tunis El Manar and Genomics Platform, Pasteur Institute of Tunis, Tunisia.

Ann Diagn Pathol 2017 Aug 28;29:41-45. Epub 2017 Apr 28.

Department of Anatomic Pathology, Cleveland Clinic, Cleveland, OH, USA. Electronic address:

Ultrastructural evaluation of skin biopsies has been utilized for diagnosis of mitochondrial disease. This study investigates how frequently skin biopsies reveal mitochondrial abnormalities, correlates skin and muscle biopsy findings, and describes clinical diagnoses rendered following the evaluation. A retrospective review of surgical pathology reports from 1990 to 2015 identified skin biopsies examined by electron microscopy for suspected metabolic disease. Read More

Epilepsy Res 2017 10 13;136:5-11. Epub 2017 Jul 13.

Disciplina de Neurociência, Escola Paulista de Medicina/Universidade Federal de São Paulo, (EPM/UNIFESP), São Paulo, Brazil. Electronic address:

Objectives: Antiepileptic drugs (AEDs) exhibit adverse and beneficial effects on mitochondria, which have a strong impact on the treatment of patients with a mitochondrial disorder (MID) with epilepsy (mitochondrial epilepsy). This review aims at summarizing and discussing recent findings concerning the effect of AEDs on mitochondrial functions and the clinical consequences with regard to therapy of mitochondrial epilepsy and of MIDs in general.

Methods: Literature review. Read More

CNS Neurosci Ther 2017 Aug 11;23(8):686-697. Epub 2017 Jul 11.

Department of Neurology, Drum Tower Hospital, Medical School of Nanjing University, Nanjing, Jiangsu, China.

Aims: Accumulated evidence indicates that cerebral metabolic features, evaluated by proton magnetic resonance spectroscopy ( H-MRS), are sensitive to early mitochondrion dysfunction associated with mitochondrial encephalomyopathy (ME). The metabolite ratios of lactate (lac)/Cr, N-acetyl aspartate (NAA)/creatine (Cr), total choline (tCho)/Cr, and myoinositol (mI)/Cr are measured in the infarct-like lesions by H-MRS and may reveal metabolic changes associated with ME. However, the application of this molecular imaging technique in the investigation of the pathology of ME subtypes is unknown. Read More

J Neurol 2017 Aug 10;264(8):1777-1784. Epub 2017 Jul 10.

Neurological Clinic, University of Pisa, Via Roma 67, 56100, Pisa, Italy.

Ocular myopathy, typically manifesting as progressive external ophthalmoplegia (PEO), is among the most common mitochondrial phenotypes. The purpose of this study is to better define the clinical phenotypes associated with ocular myopathy. This is a retrospective study on a large cohort from the database of the "Nation-wide Italian Collaborative Network of Mitochondrial Diseases". Read More

Acta Myol 2017 Mar;36(1):25-27

Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Italy.

ANT1 is one of the nuclear genes responsible of autosomal dominant progressive external ophthalmoplegia (adPEO) with mitochondrial DNA multiple deletions. The course of ANT1- related adPEO is relatively benign, symptoms being generally restricted to skeletal muscle. Here we report the case of an Italian 74 years old woman with ANT1-related adPEO and dementia. Read More

Nephrol Ther 2017 Apr;13 Suppl 1:S23-S28

Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, Via Giustiniani 3, 35128, Padova, Italy. Electronic address:

Mitochondrial cytopathies include a heterogeneous group of diseases that are characterized by impaired oxidative phosphorylation. Current evidence suggests that renal involvement is probably more frequent than originally suspected but remains subclinical in a significant number of patients or is underestimated due to the severity of other clinical manifestations. Until recently, these diseases were thought to develop primarily in pediatric patients but patients that become symptomatic only in adulthood are now well recognized. Read More

Clin Neurophysiol 2017 07 26;128(7):1258-1263. Epub 2017 Apr 26.

Institute of Neurology, University College London, London, United Kingdom. Electronic address:

Objective: To explore potential spreading to peripheral nerves of the mitochondrial dysfunction in chronic progressive external ophthalmoplegia (CPEO) by assessing axonal excitability.

Methods: CPEO patients (n=13) with large size deletion of mitochondrial DNA and matching healthy controls (n=22) were included in a case-control study. Muscle strength was quantified using MRC sum-score and used to define two groups of patients: CPEO-weak and CPEO-normal (normal strength). Read More

Neuroophthalmology 2017 Jun 23;41(3):167. Epub 2017 Mar 23.

Department of Ophthalmology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.

Acta Neurol Belg 2017 12 20;117(4):947-949. Epub 2017 May 20.

Neuroradiology Service, University Hospitals of Modena, Modena, Italy.

Biomed Rep 2017 05 12;6(5):487-494. Epub 2017 Apr 12.

Paulista de Medicina School, Federal University of São Paulo, Primeiro Andar CEP, São Paulo 04039-032, SP, Brazil.

The aim of the present review was to summarize and discuss previous findings concerning renal manifestations of primary mitochondrial disorders (MIDs). A literature review was performed using frequently used databases. The study identified that primary MIDs frequently present as mitochondrial multiorgan disorder syndrome (MIMODS) at onset or in the later course of the MID. Read More

Neuroophthalmology 2017 Jun 24;41(3):165-166. Epub 2017 Mar 24.

University of Tunis El Manar and Genomics Platform, Pasteur Institute of Tunis, Tunis, Tunisia.

Hum Mol Genet 2017 07;26(13):2515-2525

Max Planck Institute Biology of Ageing - Karolinska Institutet Laboratory, Division of Metabolic Diseases, Department of Laboratory Medicine, Karolinska Institutet, Stockholm, SE-171 77, Sweden.

Mutations in the mitochondrial DNA polymerase, POLG, are associated with a variety of clinical presentations, ranging from early onset fatal brain disease in Alpers syndrome to chronic progressive external ophthalmoplegia. The majority of mutations are linked with disturbances of mitochondrial DNA (mtDNA) integrity and maintenance. On a molecular level, depending on their location within the enzyme, mutations either lead to mtDNA depletion or the accumulation of multiple mtDNA deletions, and in some cases these molecular changes can be correlated to the clinical presentation. Read More

J Formos Med Assoc 2017 10 27;116(10):821-822. Epub 2017 Mar 27.

Department of Ophthalmology, National Taiwan University Hospital, Taipei, Taiwan; Graduate Institute of Clinical Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan. Electronic address:

J Inherit Metab Dis 2017 07 21;40(4):587-599. Epub 2017 Mar 21.

MRC-Mitochondrial Biology Unit, MRC MBU, Wellcome Trust/MRC Building, Hills Road, Cambridge, CB2 0XY, UK.

A large group of mitochondrial disorders, ranging from early-onset pediatric encephalopathic syndromes to late-onset myopathy with chronic progressive external ophthalmoplegia (CPEOs), are inherited as Mendelian disorders characterized by disturbed mitochondrial DNA (mtDNA) maintenance. These errors of nuclear-mitochondrial intergenomic signaling may lead to mtDNA depletion, accumulation of mtDNA multiple deletions, or both, in critical tissues. The genes involved encode proteins belonging to at least three pathways: mtDNA replication and maintenance, nucleotide supply and balance, and mitochondrial dynamics and quality control. Read More