ObjectiveTo elucidate the metabolic characteristics of mitochondria in sepsis and review its cellular mechanism, so as to provide new ideas for the treatment of sepsis. MethodThe previous literatures and latest research results about mitochondrial metabolism during sepsis were reviewed. ResultsAt present, the researchers were not only concerned about the inflammatory response of sepsis, but also concerned about the systemic metabolic disorder caused by sepsis. It was believed that the damage of mitochondria caused by sepsis was one of the main reasons for the disorder of cell metabolism. During the sepsis, the patient’s metabolism had changed, for example, enhancement of aerobic glycolysis, lactic acid accumulation, elevated levels of fatty acids and triglycerides in blood, and so on. ConclusionMetabolic change during sepsis is related to mitochondria, which can provide some new methods for treatment of sepsis.
Purpose To investigate mitochondrial DNA (mt-DNA) mutations in optic neuritis of unknow reason (ONUR) and to assess the pathogenic and differential diagnostic values of screening for mt-DNA mutations in ONUR. Method Thirty patients with ONUR were screened for mt-DNA mutations by using SSCP,mutation-specific primer PCR and sequencing. Results mt-DNA mutations were found in 12 out of the thirty patients.All of the mutations were at 11778 position,but no one at 3460 and 15257. Conclusions Quite a number of patients (12/30,40%) with ONUR were caused actually by mt-DNA mutation．Screening for mt-DNA mutation in these patients has a pathogenic and differential diagnostic significance. (Chin J Ocul Fundus Dis,2000,16:78-79)
Leber hereditary optic neuropathy (LHON) is a matrilineal hereditary optic neuropathy in which mitochondrial DNA mutations lead to retinal ganglion cell degeneration. At present, the treatment for LHON is limited. Early symptomatic treatment and medical treatment may improve the vision of patients. In recent years, rapid progress has been made in gene therapy. Many clinical studies have confirmed its safety and efficacy. Monocular gene therapy is helpful to improve the visual function of LHON patients, and it can also improve the visual acuity of uninjected eyes. Patients do not have serious eye or systemic adverse events during the treatment period, showing good safety and tolerance. Studies with larger sample size and longer follow-up time are needed to further verify the efficacy and safety of gene therapy in the future. Gene therapy is expected to become a safe and effective treatment, bringing hope to LHON patients.
Objective To investigate the major types and clinical manifestations of mitochondrial DNA (mtDNA)mutations in Chinese patients with Leber′s hereditary optic neuropathy(LHON). Methods A total of 119 patients with bilateral optic neuropathy from 117 pedigrees, including 37 with determinate diagnosis of LHON(group A) and 82 with suspected LHON(group B),were tested for mtDNA mutations by using single-strand conformational polymorphism, mutation-specific primer polymerase chain reaction and sequencing. Pertinent clinical data and history of the patients with the 11778 mutation were collected. Results Nucleotide positions(np)11778 mutation and np 14484 mutation was found in 33 (89.2%) and 3 (8.1%) patients respectively in group A, while np 11778 mutation was obtained in 26（31.7%）in group B. No 3460 mutation was found in group A or B. The clinical manifestations of 59 patients with np 11778 mutation were as follows: acute or chronic visual loss，no ophthalmalgia, the age of onset of 10-25, and either a central or paracentral scotoma in perimetry. The visual recovery rate was 8.6%～11.6%. Conclusion Chinese patients with LHON have a very high incidence of np 11778 mutation and the clinical manifestations of the patients with np 11778 mutation are similar to those of Caucasian patients. (Chin J Ocul Fundus Dis，2004，20：78-80)
Objective To analyze the clinical characteristics of antimitochondrial antibody (AMA)-associated cardiac injury. Methods AMA positive patients admitted to West China Hospital of Sichuan University between June 2008 and November 2023 were retrospectively selected. They were categorized into the simple cardiac involvement group and the cardiac and skeletal muscle involvement group according to the presence of skeletal muscle injury. Differences in demographic characteristics, serologic indices, cardiac structure and function, and arrhythmias were compared between the two groups. Results A total of 55 AMA-M2 positive patients with myocardial injury were enrolled. There were 18 cases in the simple cardiac involvement group and 37 cases in the cardiac and skeletal muscle involvement group among them. The age (P=0.002) and mortality rate (P=0.031) of the simple cardiac involvement group were higher than those of the cardiac and skeletal muscle involvement group. There were significant differences in biochemical indicators such as lactate dehydrogenase and α-hydroxybutyrate dehydrogenase between the two groups, and the levels of myocardial enzymes such as creatine kinase isoenzyme, myoglobin and troponin T in the cardiac involvement group were lower than those in the cardiac with skeletal muscle involvement group (P<0.05). Meanwhile, there were significant differences in the incidence of atrial premature beats, atrial fibrillation and other arrhythmias between the two groups (P<0.05). In terms of treatment modalities, glucocorticoids and immunosuppressants were used more frequently in the cardiac combined skeletal muscle involvement group than in the cardiac involvement alone group, whereas β-blockers and diuretics were more prevalent in the cardiac involvement alone group (P<0.05). Conclusion Patients with cardiac involvement alone may have a more insidious or rapid progression of the disease, which requires clinicians to pay higher attention to and provide timely and effective treatment, thus improving the overall prognosis and quality of life of the patients.
As the “power center” of the cell and the center of metabolic signaling, mitochondria play an important role before, during, and after cerebral ischemia. After ischemic stroke, molecules such as mitoNEET, optic atrophy 1, and mitochondrial division inhibitor 1 can play a neuroprotective role by regulating the state of the mitochondria. Mitochondria are not only energy-supplying organelles, but their biogenesis and movement also play an important role in neuronal growth, differentiation, synapse formation and neural circuit formation after ischemic stroke. Rehabilitation at all stages can play a therapeutic role by modulating mitochondrial function.
Mitochondrial DNA (mtDNA) is the circulating genome in mitochondria, and it is easy to accumulate oxidative damage, causing mitochondrial dysfunction, and then cell dysfunction, and even tissue and body pathological changes, leading to diseases. As a pro-inflammatory, inflammatory, and even predictive factor, mtDNA is directly involved in the inflammatory response and the pathogenesis of many diseases. This article aims to review the current pathogenesis of mtDNA damage and its pathogenic role in various human diseases.
Objective To review the research progress of mitochondrial dynamics mediated by optic atrophy 1 (OPA1) in skeletal system diseases. MethodsThe literatures about OPA1-mediated mitochondrial dynamics in recent years were reviewed, and the bioactive ingredients and drugs for the treatment of skeletal system diseases were summarized, which provided a new idea for the treatment of osteoarthritis. Results OPA1 is a key factor involved in mitochondrial dynamics and energetics and in maintaining the stability of the mitochondrial genome. Accumulating evidence indicates that OPA1-mediated mitochondrial dynamics plays an important role in the regulation of skeletal system diseases such as osteoarthritis, osteoporosis, and osteosarcoma. Conclusion OPA1-mediated mitochondrial dynamics provides an important theoretical basis for the prevention and treatment of skeletal system diseases.
ObjectiveTo observe the clinical features of patients over 30 years old with Leber hereditary optic neuropathy (LHON). MethodsNine male LHON patients (18 eyes) were enrolled in this study. The patients aged from 34 to 56 years old, with an average age of (45.22±6.91) years. The course of the disease ranged from 7 days to 21 months, with a mean course of 5 months. Visual acuity, slit lamp microscope, chromoptometry, direct ophthalmoscope and fundus photography were measured for all patients, visual field examined for 6 patients (11 eyes). Mitochondrial DNA mutation was analyzed. The visual acuity was followed-up for 12 months. ResultsSeven of the 9 patients (77.78%) had family history. Five patients (55.56%) had both eyes involved simultaneously, and 4 patients (44.44%) had the eyes involved at different time. Three patients (33.33%) had sudden visual loss, and 6 patients (66.67%) had gradual visual loss. The visual acuity was light perception in 1 eye (5.55%), finger counting in 3 eyes (16.67%), 0.01-0.1 in 7 eyes (38.89%), 0.12-0.3 in 3 eyes (16.67%), equal or greater than 0.4 in 4 eyes (22.22%). Sixteen eyes (88.88%) had normal light reflex, 1 eye (5.55%) had no light reflex, and 1 eye (5.55%) had relative afferent papillary defect. Eight eyes (44.44%) had normal optic disk, 3 eyes (16.67%) had blurred optic disc border and disc telangiectasia, 7 eyes (38.89%) had pale disc and clear boundary. Among 11 eyes underwent visual field examination, 9 eyes (81.82%) had central or paracentral scotoma and 2 eyes (18.18%) had visual field narrowing. Among 9 patients, there were 7 patients (77.78%) with G11778A mutation, 1 patient (11.11%) with G11696A mutation, and 1 patient (11.11%) with T14484C mutation. In the last follow-up, the visual acuity was light perception in 1 eye (5.55%), finger counting in 4 eyes (22.22%), 0.01-0.1 in 6 eyes (33.33%), 0.12-0.3 in 3 eyes (16.67%), equal or greater than 0.4 in 4 eyes (22.22%).The visual acuity was improved in 9 eyes (50.00%), stable in 7 eyes(38.89%), and decreased in 2 eyes (11.11%). ConclusionLHON patients (older than 30 years) are more common in men, mostly with normal light reflex, central or paracentral scotoma and G11778A mutation.
ObjectiveTo review the advances of the role of mitochondrial dysfunction in the spinal cord injury (SCI) and its relevant treatments. MethodsFocusing on various mechanisms of mitochondrial dysfunction, recent relevant literature at home and abroad was identified to summarize the therapeutic strategies for SCI. ResultsMitochondrial dysfunction is mainly manifested in abnormalities in mitochondrial energy metabolism, mitochondrial oxidative stress, mitochondrial-mediated apoptosis, mitophagy, mitochondrial permeability transition, and mitochondrial biogenesis, playing a vital role in the development of SCI. Drug that enhanced mitochondrial function have been proved beneficial for the treatment of SCI. ConclusionMitochondrial dysfunction can serve as a potential therapeutic target for SCI, providing ideas and basis for the development of SCI therapeutic candidates in the future.