Abstract:
:Mitochondria are small, energy-producing structures vital to the energy needs of the body. Genetic mutations cause mitochondria to fail to produce the energy needed by cells and organs which can cause severe disease and death. These genetic mutations are likely to be in the mitochondrial DNA (mtDNA), or possibly in the nuclear DNA (nDNA). The goal of this review is to assess the current understanding of mitochondrial diseases. This review focuses on the pathology, causes, risk factors, symptoms, prevalence data, symptomatic treatments, and new research aimed at possible preventions and/or treatments of mitochondrial diseases. Mitochondrial myopathies are mitochondrial diseases that cause prominent muscular symptoms such as muscle weakness and usually present with a multitude of symptoms and can affect virtually all organ systems. There is no cure for these diseases as of today. Treatment is generally supportive and emphasizes symptom management. Mitochondrial diseases occur infrequently and hence research funding levels tend to be low in comparison with more common diseases. On the positive side, quite a few genetic defects responsible for mitochondrial diseases have been identified, which are in turn being used to investigate potential treatments. Speech therapy, physical therapy, and respiratory therapy have been used in mitochondrial diseases with variable results. These therapies are not curative and at best help with maintaining a patient's current abilities to move and function.
journal_name
PeerJjournal_title
PeerJauthors
Ahuja ASdoi
10.7717/peerj.4790subject
Has Abstractpub_date
2018-05-21 00:00:00pages
e4790issn
2167-8359pii
4790journal_volume
6pub_type
杂志文章相关文献
PeerJ文献大全abstract:Aim:Historically, the distribution of Sandhill Cranes included much of North America and extending in summer into northeast Russia. In recent years, observations of sandhill cranes in Asia during the non-breeding period have been frequently reported. However, the distribution and abundance of sandhill cranes during the...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.7545
更新日期:2019-08-30 00:00:00
abstract::Tethering a fly for stationary flight allows for exquisite control of its sensory input, such as visual or olfactory stimuli or a punishing infrared laser beam. A torque meter measures the turning attempts of the tethered fly around its vertical body axis. By punishing, say, left turning attempts (in a homogeneous env...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.1971
更新日期:2016-04-25 00:00:00
abstract::Mutations that cause an error in the splicing of a messenger RNA (mRNA) can lead to diseases in humans. Various computational models have been developed to recognize the sequence pattern of the splice sites. In recent studies, Convolutional Neural Network (CNN) architectures were shown to outperform other existing mod...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.9470
更新日期:2020-07-06 00:00:00
abstract::The marine gastropod, Coralliophila abbreviata, is an obligate corallivore that causes substantial mortality in Caribbean Acropora spp. Considering the imperiled status of Acropora cervicornis and A. palmata, a better understanding of ecological interactions resulting in tissue loss may enable more effective conservat...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.1239
更新日期:2015-09-10 00:00:00
abstract::The partitioning of production forests into discretely managed forest stands confronts animals with diversity in forest attributes at scales from point-level tree assemblages to distinct forest patches and range-level forest cover. We have investigated the movement and ranging patterns of male Common Chaffinches, Frin...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.368
更新日期:2014-06-19 00:00:00
abstract::The aim of this study was the characterization of fatty acids, antioxidant activity, some physical properties, nutrient content, sugars, and minerals in the pulp and seeds of the date cultivar 'Medjool' (Phoenix dactylifera L.) grown in Mexico. The samples were obtained at maturity (Tamar) in the 2017 harvest season i...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.6821
更新日期:2019-07-17 00:00:00
abstract::Chloroplasts are typically inherited from the female parent and are haploid in most angiosperms, but rare intra-individual heteroplasmy in plastid genomes has been reported in plants. Here, we report an example of plastome heteroplasmy and its characteristics in Gentiana tongolensis (Gentianaceae). The plastid genome ...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.8025
更新日期:2019-11-27 00:00:00
abstract::Exclosures that exclude large herbivores are effective tools for the protection and restoration of grazed plant communities. However, previous studies have shown that the installation of an exclosure does not ensure plant community recovery. Our study aimed to determine the effects of the domination of unpalatable pla...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.7833
更新日期:2019-10-01 00:00:00
abstract:BACKGROUND:Essential oil components (EOCs) are molecules with interesting application in pest control, these have been evaluated against different insect pest from more than 100 years, but their practical use is rather limited. Thus, the enhancement of their bioavailability and manageability due to their dispersion in ...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.3171
更新日期:2017-04-20 00:00:00
abstract::Neurons are embedded in an extracellular matrix (ECM), which functions both as a scaffold and as a regulator of neuronal function. The ECM is in turn dynamically altered through the action of serine proteases, which break down its constituents. This pathway has been implicated in the regulation of synaptic plasticity ...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.6796
更新日期:2019-04-23 00:00:00
abstract:BACKGROUND:Because etomidate induces prolonged adrenal suppression, even following a single bolus, its use as an infused anesthetic is limited. Our previous study indicated that a single administration of the novel etomidate analog methoxyethyletomidate hydrochloride (ET-26-HCl) shows little suppression of adrenocortic...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.3693
更新日期:2017-09-04 00:00:00
abstract::Gymnosperms such as ginkgo, conifers, cycads, and gnetophytes are vital components of land ecosystems, and they have significant economic and ecologic value, as well as important roles as forest vegetation. In this study, we investigated the structural variation and evolution of chloroplast transfer RNAs (tRNAs) in gy...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.10312
更新日期:2020-11-25 00:00:00
abstract:Background:The distribution and use of camphor (Cinnamomum camphora L.) trees are constrained by increasing soil salinity in south-eastern China along the Yangtze River. However, the response mechanism of this species to salinity, especially in team of photosynthesis, are unknown. Methods:Here, we analysed themorpholo...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.9443
更新日期:2020-08-07 00:00:00
abstract::Paratya australiensis Kemp (Decapoda: Atyidae) is a widely distributed freshwater shrimp in eastern Australia. The species has been considered as an important stream organism for studying genetics, dispersal, biology, behaviour and evolution in atyids and is a major food source for stream dwelling fishes. Paratya aust...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.8139
更新日期:2020-01-09 00:00:00
abstract::A new Primulina species from Guangdong, China with an unusual inflorescence is described here. Primulina anisocymosa is vegetatively most similar to P. bobaiensis. It can be distinguished from all species within Primulina morphologically by its unique zigzag monochasial cyme and infructescence. To confirm the phylogen...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.6157
更新日期:2019-01-04 00:00:00
abstract:Background:Quantifying lower-limb load and asymmetry during team sport match-play may be important for injury prevention and understanding performance. However, current analysis methods of lower-limb symmetry during match-play employ wearable microtechnology that may not be best suited to the task. A popular microtechn...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.9366
更新日期:2020-06-23 00:00:00
abstract::Mollusc shells are an abundant resource that have been long used to predict the structures of ancient ecological communities, examine evolutionary processes, reconstruct paleoenvironmental conditions, track and predict responses to climatic change, and explore the movement of hominids across the globe. Despite the ubi...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.9420
更新日期:2020-07-30 00:00:00
abstract::This work was aimed to investigate the effects of the different particle size of ground alfalfa hay on caecal microbial and archeal communities of rabbits. One hundred-twenty New Zealand rabbits (950.3 ± 8.82 g) were allocated into four treatments, with five replicates in each treatment and six rabbits in each replica...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.7910
更新日期:2019-10-18 00:00:00
abstract::Background. Neonatal hyperbilirubinemia (HB) may cause severe neurological damage, but serious consequences are effectively controlled by phototherapy and blood exchange transfusion. HB is still a serious health problem in economically compromised parts of the world. The long term outcome has been regarded favorable b...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.294
更新日期:2014-03-04 00:00:00
abstract:Background:Nurses are often the first to activate the chain of survival when a cardiorespiratory arrest happens. That is why it is crucial that they keep their knowledge and skills up-to-date and their attitudes to resuscitation are very important. The main aim of this study was to analyse whether the level of theoreti...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.6410
更新日期:2019-02-07 00:00:00
abstract::The mammalian pelvis is thought to exhibit adaptations to the functional demands of locomotor behaviors. Previous work in primates has identified form-function relationships between pelvic shape and locomotor behavior; few studies have documented such relationships in carnivorans, instead focusing on long bones. Most ...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.8574
更新日期:2020-02-20 00:00:00
abstract::Previous research has shown that odorants consistently evoke associations with textures and their tactile properties like smoothness and roughness. Also, it has been observed that olfaction can modulate tactile perception. We therefore hypothesized that tactile roughness perception may be biased towards the somatosens...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.955
更新日期:2015-05-12 00:00:00
abstract:Background:The independent effects of hypohydration and hyperthermia on cognition and mood is unclear since the two stresses often confound each other. Further, it is unknown if obese individuals have the same impairments during hyperthermia and hypohydration that is often observed in non-obese individuals. Methods:Th...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.5394
更新日期:2018-08-16 00:00:00
abstract:Background:In the absence of highly effective antiviral therapies against SARS-CoV-2, it is crucial to counter the known pathophysiological causes of severe COVID-19. Evaluating the efficacy existing drugs may expedite the development of such therapeutics. Severe COVID-19 is largely the result of a dysregulated immune ...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.10322
更新日期:2020-11-02 00:00:00
abstract::Movement is one of the most important epigenetic factors for normal development of the musculoskeletal system, particularly during genesis and joint development. Studies regarding alterations to embryonic mobility, performed on anurans, chickens and mammals, report important phenotypical similarities as a result of th...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.1730
更新日期:2016-02-18 00:00:00
abstract:Background:Extensive genome rearrangements, known as chromothripsis, have been recently identified in several cancer types. Chromothripsis leads to complex structural variants (cSVs) causing aberrant gene expression and the formation of de novo fusion genes, which can trigger cancer development, or worsen its clinical ...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.7071
更新日期:2019-06-12 00:00:00
abstract::Twist1, a basic helix-loop-helix transcription factor that regulates a number of genes involved in epithelial-to-mesenchymal transition (EMT), is upregulated in prostate cancer. Androgen regulation of Twist1 has been reported in a previous study. However, the mechanism of androgen regulation of the Twist1 gene is not ...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.8921
更新日期:2020-04-09 00:00:00
abstract:Background:Anaplastic thyroid carcinoma (ATC) is a rare malignant tumor with a poor prognosis. However, there is no useful clinical prognostic predictive tool for ATC so far. Our study identified risk factors for survival of ATC and created a reliable nomogram to predict overall survival (OS) and cancer-specific surviv...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.9173
更新日期:2020-05-21 00:00:00
abstract:Background:Modern advances in sequencing technology have enabled the census of microbial members of many natural ecosystems. Recently, attention is increasingly being paid to the microbial residents of human-made, built ecosystems, both private (homes) and public (subways, office buildings, and hospitals). Here, we rep...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.4029
更新日期:2017-12-05 00:00:00
abstract::Amazonian bamboo forests dominated by large woody bamboo plants in the genus Guadua cover approximately 180,000 km2 and represent a key resource for many organisms. In southwestern Amazonia, native bamboo forests differ in structure, biodiversity, and growth dynamics from other forest types in the region. However, wit...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.5153
更新日期:2018-07-03 00:00:00