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Mitochondrial DNA disorders.

UNLABELLED: Over 100 pathogenic point mutations and 200 deletions, insertions, and rearrangements have been identified since the first mitochondrial DNA mutations were described in 1988. About 60% of the point mutations affect mitochondrial tRNAs, 35% affect polypeptide subunits of the respiratory chain, and 5% affect mitochondrial ribosomal RNAs. The clinical phenotypes of mitochondrial tRNA disease span the spectrum of all known oxidative phosphorylation disorders and include MELAS, MERRF, Leigh syndrome, PEO, deafness, diabetes, sideroblastic anemia, myoclonus, skeletal myopathy, cardiomyop

Nail-patella syndrome associated with respiratory chain disorder.

Nail-patella syndrome (NPS) has not been described to be associated with a respiratory chain disorder (RCD) before. In a 42-year-old man with the typical phenotype of an NPS, weakness and wasting of the shoulder girdle muscles, muscle cramps, fatigability, hyperhidrosis, chest pain and creatine kinase elevation were observed. Echocardiography revealed left ventricular hypertrabeculation. Needle electromyography was myopathic, lactate stress testing was abnormal, muscle biopsy showed typical features of an RCD and mtDNA analysis revealed the A3243G MELAS mutation. In conclusion, this case demon

[Mitochondrial myopathy. Encephalopathy with lactic acidosis and cerebral infarction].

A 21 year-old man presented with a history of sudden onset of aphasia and headache. CT showed a left parietal hypodensity and pallidal calcifications. The ECG showed a Wolff-Parkinson-White's syndrome. The patient then developed successively focal epileptic seizures, temper disorders, a cardiomyopathy, a pepper and salt retinopathy with hemeralopia, a left hemiplegia, deafness, and fever of unexplained origin. Left carotid angiography showed thin, irregular or occluded branches of the middle and anterior cerebral arteries. Blood muscle enzymes, lactate and pyruvate, were elevated with acidosis

[Mitochondrial diseases].

Mitochondrial diseases (MD) are caused by mutations in the mitochondrial DNA or nuclear DNA. The clinical manifestation is often most severe in tissues with high energy demands. The most common MDs are Leber's hereditary optic neuropathy (LHON), chronic progressive external ophthalmoplegia (CPEO) and mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS). Therapeutic approaches for MD include bridging of respiratory chain defects, pharmacological stimulation of mitochondrial metabolism, supplementation of deficient factors and symptomatic treatment. Initial gene

Взрослые и дети имеют статус координатора по вопросам эпилепсии и эпилепсии continua.

Эпилептический эпилептический и эпилепсиа particentis continua (FSE-EPC) наиболее часто встречается с хроническим хроническим прогрессивным энцефалитом Расмуссена и русским весенним энцефалитом. FSE-EPC, возможно, является характерной особенностью некетотического гипергликемического сахарного диабета, но чаще всего его называют поздним осложнением, особенно если имеет место сопутствующее церебральное повреждение, например церебральное инфаркт. FSE-EPC может быть связан с множественным склерозом, первичными или метастатическими опухолями мозга, синдромом МЕРРФ-МЕЛАС, доброкачественной эпилепсие

Совпадение в аннотации оригинала
Focal status epilepticus and epilepsia partialis continua (FSE-EPC) are most frequently seen with chronic focal progressive encephalitis of … rction. FSE-EPC may be related to multiple sclerosis, primary or metastatic brain tumors, the MERRF-MELAS syndrome, benign epilepsy of childhood with rolandic spikes, and in some adults with acquired aphasia. The physiological origin of the myoclonic jerks seen in EPC is cortical and may be either spontaneous or provoked by the joint position of the affected lim …

Epilepsy in mitochondrial disorders.

OBJECTIVES: Information about epilepsy in mitochondrial disorders is scarce although a number or syndromic and non-syndromic mitochondrial disorders frequently manifest with focal or generalized seizures. Aim of the review was to describe epilepsy in syndromic and non-syndromic mitochondrial disorders with epilepsy as a dominant or collateral feature of the phenotype. METHODS: Literature search via Pubmed using the key words "mitochondrial", "epilepsy", "seizures", and all acronyms of syndromic mitochondrial disorders. RESULTS: Syndromic mitochondrial disorders obligatory associated with epi

Management of mitochondrial stroke-like-episodes.

Aim of this review is to discuss recent findings concerning the management of stroke-like episodes (SLEs) in patients with mitochondrial disorders (MIDs). Various databases were searched for appropriate literature. SLEs are a dominant feature of MIDs and occur most frequently in MELAS-syndrome, less frequently in MERRF-syndrome, Kearns-Sayre-syndrome, or Leigh-syndrome. SLEs occur at all ages and are frequently accompanied by other cerebral abnormalities. Clinically, SLEs mimic ischemic stroke but not on imaging studies and concerning the management. The morphological equivalent on MRI is the

Renal manifestations in adults with mitochondrial disease from the mtDNA m.3243A>G pathogenic variant.

Mitochondrial diseases are a phenotype and genotype heterogeneous group of disorders that typically have a multisystemic involvement. The m.3243A>G pathogenic variant is the most frequent mitochondrial DNA defect, and it causes several different clinical syndromes, such as mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS), and the maternally inherited diabetes and deafness (MIDD) syndromes. Not frequently reported, renal involvement in these diseases is probably underestimated, yet it increases morbidity. It generally manifests as subnephrotic proteinuria and progr

Mitochondrial myopathy without extraocular muscle involvement: a unique clinicopathologic profile.

OBJECTIVE: Mitochondrial myopathy without extraocular muscles involvement (MiMy) represents a distinct form of mitochondrial disorder predominantly affecting proximal/distal or axial muscles, with its phenotypic, genotypic features, and long-term prognosis poorly understood. METHODS: A cross-sectional study conducted at a national diagnostic center for mitochondrial disease involved 47 MiMy patients, from a cohort of 643 mitochondrial disease cases followed up at Qilu Hospital from January 1, 2000, to January 1, 2021. We compared the clinical, pathological, and genetic features of MiMy to pro

Apomorphine rescues reactive oxygen species-induced apoptosis of fibroblasts with mitochondrial disease.

Mitochondrial disease is a genetic disorder in which individuals suffer from energy insufficiency. The various clinical phenotypes of mitochondrial disease include Leigh syndrome (LS), myopathy encephalopathy lactic acidosis and stroke-like episodes (MELAS). Thus far, no curative treatment is available, and effective treatment options are eagerly awaited. We examined the cell protective effect of an existing commercially available chemical library on fibroblasts from four patients with LS and MELAS and identified apomorphine as a potential therapeutic drug for mitochondrial disease. We conduct

Prevalence and natural history of heart disease in adults with primary mitochondrial respiratory chain disease.

AIMS: The prevalence and natural history of cardiovascular disease in adult patients with respiratory chain disease (RCD) is poorly characterized. We sought to determine the frequency and natural history of cardiac disease in patients with primary RCD. METHODS AND RESULTS: Thirty-two patients (37.8 + or - 12.6 years) with a definite diagnosis of RCD underwent clinical examination, electrocardiography (ECG), 24 h Holter ECG, and cardiopulmonary exercise testing. Patients were classified into six different phenotypes: mitochondrial myopathy (MM; n = 8), chronic progressive ophthalmoplegia (CPEO

Late-onset mitochondrial encephalopathy with lactic acidosis and stroke-like episodes and the role of serial imaging.

Mitochondria are essential for human metabolic function. Over 350 genetic mutations are associated with mitochondrial diseases, which are inherited in a matrilineal fashion. In mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS), defective mitochondrial function and resultant impaired cellular energy production compromise vascular perfusion in affected tissues. Early diagnostic criteria suggested the diagnosis should be considered in those under 40. However, a broader range of phenotypes are now recognised, including those that present for the first time later in

Pronounced mito-nuclear discordance and various Wolbachia infections in the water ringlet Erebia pronoe have resulted in a complex phylogeographic structure.

Several morphological and mitochondrial lineages of the alpine ringlet butterfly species Erebia pronoe have been described, indicating a complex phylogenetic structure. However, the existing data were insufficient and allow neither a reconstruction of the biogeographic history, nor an assessment of the genetic lineages. Therefore, we analysed mitochondrial (COI, NDI) and nuclear (EF1α, RPS5) gene sequences and compared them with sequences from the sister species Erebia melas. Additionally, we combined this information with morphometric data of the male genitalia and the infection patterns with