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Krzysztof Dolowy
Ischemic preconditioning makes cells less sensitive to oxygen deprivation. A similar effect can be achieved by increasing the calcium concentration and applying potassium channel openers. A hypothetical mechanism of preconditioning is presented. In the mitochondrial matrix, there is a calcium hydroxide buffer consisting of a few insoluble calcium phosphate minerals. During ischemia, calcium ions stored in the matrix buffer start to leak out, forming an electric potential difference, while hydroxyl ions remain in the matrix, maintaining its pH and the matrix volume...
November 15, 2018: Mitochondrion
In Wook Hwang, Bit Na Kwon, Hyung Jun Kim, Seung Hun Han, Noo Ri Lee, Myung Ho Lim, Ho Jang Kwon, Han Jun Jin
Attention deficit hyperactivity disorder (ADHD) is a multifactorial disorder with multiple environmental and biological etiologies, including genetic factors. Until now, several genetic variants have been reported to be significantly associated with ADHD. Recently, the relationship between mitochondrial DNA (mtDNA) haplogroups and psychiatric disorders such as schizophrenia has also been reported. However, currently there are no reports pertaining to the genetic association between mtDNA haplogroups and ADHD...
November 10, 2018: Mitochondrion
Dorota Piekutowska-Abramczuk, Magdalena Kaliszewska, Anna Sułek, Natalia Jurkowska, Mariusz Ołtarzewski, Ewa Jabłońska, Joanna Trubicka, Aleksandra Głowacka, Elżbieta Ciara, Paweł Kowalski, Karolina Langiewicz-Wojciechowska, Marketa Tesarova, Jiri Zeman, Biruta Kierdaszuk, Dariusz Kuczyński, Dariusz Chmielewski, Edyta Szymańska, Agnieszka Bakuła, Anna Łusakowska, Marta Lipowska, Bogdan Brodacki, Joanna Pera, Małgorzata Dorobek, Małgorzata Rydzanicz, Rafał Płoski, Halina Chrzanowska Krystyna, Ewa Bartnik, Grzegorz Placha, Anna Kamińska, Anna Kostera-Pruszczyk, Małgorzata Krajewska-Walasek, Katarzyna Tońska, Ewa Pronicka
Diseases related to DNA polymerase gamma dysfunction comprise of heterogeneous clinical presentations with variable severity and age of onset. Molecular screening for the common POLG variants: p.Ala467Thr, p.Trp748Ser, p.Gly848Ser, and p.Tre251Ile has been conducted in a large population cohort (n = 3123) and in a clinically heterogeneous group of 1289 patients. Recessive pathogenic variants, including six novel ones were revealed in 22/26 patients. Infantile Alpers-Huttenlocher syndrome and adulthood ataxia spectrum were the most common found in our group...
November 10, 2018: Mitochondrion
Alyson Sujkowski, Adam N Spierer, Thiviya Rajagopalan, Brian Bazzell, Maryam Safdar, Dinko Imsirovic, Robert Arking, David Rand, Robert Wessells
Endurance exercise has received increasing attention as a broadly preventative measure against age-related disease and dysfunction. Improvement of mitochondrial quality by enhancement of mitochondrial turnover is thought to be among the important molecular mechanisms underpinning the benefits of exercise. Interactions between the mitochondrial and nuclear genomes are important components of the genetic basis for variation in longevity, fitness and the incidence of disease. Here, we examine the effects of replacing the mitochondrial genome (mtDNA) of several Drosophila strains with mtDNA from other strains, or from closely related species, on exercise performance...
November 6, 2018: Mitochondrion
Denise Mafra, Natália Alvarenga Borges, Bengt Lindholm, Peter Stenvinkel
No abstract text is available yet for this article.
November 5, 2018: Mitochondrion
Komal Panchal, Anand Krishna Tiwari
Neurodegenerative diseases (NDs) are the group of disorder that includes brain, peripheral nerves, spinal cord and results in sensory and motor neuron dysfunction. Several studies have shown that mitochondrial dynamics and their axonal transport play a central role in most common NDs such as Alzheimer's disease (AD), Parkinson's disease (PD), Huntington's disease (HD) and Amyotrophic Lateral Sclerosis (ALS) etc. In normal physiological condition, there is a balance between mitochondrial fission and fusion process while any alteration to these processes cause defect in ATP (Adenosine Triphosphate) biogenesis that lead to the onset of several NDs...
November 5, 2018: Mitochondrion
Leonardo de Moura Alvorcem, Renata Britto, Belisa Parmeggiani, Nícolas Manzke Glanzel, Nevton Teixeira da Rosa-Junior, Cristiane Cecatto, Larissa Daniele Bobermin, Alexandre Umpierrez Amaral, Moacir Wajner, Guilhian Leipnitz
We report here the effects of hydrogen sulfide (sulfide), that accumulates in ETHE1 deficiency, in rat cerebellum. Sulfide impaired electron transfer and oxidative phosphorylation. Sulfide also induced mitochondrial swelling, and decreased ΔΨm and calcium retention capacity in cerebellum mitochondria, which were prevented by cyclosporine A (CsA) plus ADP, and ruthenium red, suggesting mitochondrial permeability transition (mPT) induction. Melatonin (MEL) and N-ethylmaleimide also prevented sulfide-induced alterations...
November 3, 2018: Mitochondrion
Meiying Yang, Yanji Xu, James S Heisner, Jie Sun, David F Stowe, Wai-Meng Kwok, Amadou K S Camara
Cardiac ischemia and reperfusion (IR) injury induces excessive emission of deleterious reactive O2 and N2 species (ROS/RNS), including the non-radical oxidant peroxynitrite (ONOO- ) that can cause mitochondria dysfunction and cell death. In this study, we explored whether IR injury in isolated hearts induces tyrosine nitration of adenine nucleotide translocase (ANT) and alters its interaction with the voltage-dependent anion channel 1 (VDAC1). We found that IR injury induced tyrosine nitration of ANT and that exposure of isolated cardiac mitochondria to ONOO- induced ANT tyrosine, Y81 , nitration...
October 31, 2018: Mitochondrion
Junhwan Kim, Kwangwon Lee, Hisashi Fujioka, Bernard Tandler, Charles L Hoppel
Mutations in the tafazzin gene are the basis of Barth syndrome. The tafazzin protein is responsible for the synthesis of cardiolipin. Doxycycline-induced tafazzin-knockdown mice have been used as a model for Barth syndrome. In the current study, we examined subsarcolemmal and interfibrillar mitochondria from hearts of tafazzin-knockdown mice, focusing on mitochondrial ultrastructure, oxidative phosphorylation, electron transport chain complex activity, and phospholipid and supercomplex content. We then compared the result with mitochondrial pathology in Barth syndrome patients...
October 30, 2018: Mitochondrion
Ling Xue, Yaru Chen, Xiaowen Tang, Juan Yao, Huimin Huang, Min Wang, Shixin Ye, Meng Wang, Min-Xin Guan
Mutations in mitochondrial DNA (mtDNA) have been associated with deafness and their pathophysiology remains poorly understood. In this study, we investigated the pathogenic mechanism of deafness-associated 7505A > G variant in the mitochondrial tRNASer(UCN) . The m.7505A > G variant affected the highly conserved adenine at position 11 (A11), disrupted the highly conserved A11-U24 base-pairing of DHU stem of tRNASer(UCN) and introduced a tertiary base pairing (G11-C56) with the C56 in the TΨC loop...
October 15, 2018: Mitochondrion
Mark F Kavlick
A hybrid absolute/relative qPCR assay which provides information regarding the condition of mitochondrial DNA (mtDNA) in a DNA sample is described. MtDNA concentration (copy number/μL) is determined via absolute quantification using a standard curve of a synthetic duplex DNA previously described (Kavlick et al., 2011). The state of mtDNA degradation is determined via the relative quantification of a mtDNA target found within the 16 s rRNA gene which is 3× longer than that of the short target in the former duplex assay, using the delta, delta Ct (ΔΔCt) method...
September 25, 2018: Mitochondrion
Arindam Palodhi, Sahana Ghosh, Nidhan K Biswas, Analabha Basu, Partha Pratim Majumder, Arindam Maitra
We have identified 164 somatic mutations in mitochondrial DNA in gingivobuccal oral cancer by deep sequencing the mitochondrial genome from paired tumor and blood DNA samples from 89 patients. We have found evidence of positive selection of somatic nonsynonymous mutations. Non-synonymous mutations in mitochondrial respiratory genes were found to increase the risk of lymph node metastasis (P = 0.0028). We have observed a significant reduction in mitochondrial DNA copy number in tumor DNA of these patients compared to the DNA from adjacent normal tissue samples (P < 1 × 10-6 )...
September 24, 2018: Mitochondrion
Arianna Di Stadio, Corrado Angelini
No abstract text is available yet for this article.
September 19, 2018: Mitochondrion
Lucía Spangenberg, Martín Graña, Santiago Mansilla, Jennyfer Martínez, Alejandra Tapié, Gonzalo Greif, Nélida Montano, Alicia Vaglio, Rosario Gueçaimburú, Carlos Robello, Laura Castro, Celia Quijano, Victor Raggio, Hugo Naya
Mitochondrial diseases (MD) are a group of diseases that can be caused by either mutations in the mitochondrial genome or nuclear DNA. MD may be difficult to diagnose since very often they are highly heterogeneous and with overlapping phenotypes. Molecular genomics approaches, especially NGS have helped in this sense. In this study we have sequenced the mitochondrial genome of a girl with an unspecific neurological disorder and her mother. The later, while neurologically unaffected, suffers from a myopathy without clear cause...
September 15, 2018: Mitochondrion
Ana Carolina P Cruz, Adriano Ferrasa, Alysson R Muotri, Roberto H Herai
Mitochondria are small cytosolic organelles and the main source of energy production for the cells, especially in the brain. This organelle has its own genome, the mitochondrial DNA (mtDNA), and genetic variants in this molecule can alter the normal energy metabolism in the brain, contributing to the development of a wide assortment of Neurological Disorders (ND), including neurodevelopmental syndromes, neurodegenerative diseases and neuropsychiatric disorders. These ND are comprised by a heterogeneous group of syndromes and diseases that encompass different cognitive phenotypes and behavioral disorders, such as autism, Asperger's syndrome, pervasive developmental disorder, attention deficit hyperactivity disorder, Huntington disease, Leigh Syndrome and bipolar disorder...
September 12, 2018: Mitochondrion
Somayeh Khatami, Hassan Rokni-Zadeh, Neda Mohsen-Pour, Alireza Biglari, Majid Changi-Ashtiani, Mohammad Shahrooei, Tina Shahani
Genetic contributing factors to non-syndromic hearing loss (NSHL) are remarkably diverse spanning over autosomal to X-linked to mitochondrial inheritance patterns. Facing a quite unconventional pedigree, here we report implementation of whole exome sequencing (WES) to uncover mitochondrial pathogenic variant in a six-generation Iranian family with four cases affected with hereditary NSHL of variable severity. As a result, heteroplasmic transition of A to G at position 1555 of MT-RNR1 gene was identified in all affected individuals co-existing with nuclear c...
September 8, 2018: Mitochondrion
Hong Guo, Shiying Li, Limeng Dai, Xiaoyong Huang, Tao Yu, Zhengqin Yin, Yun Bai
We report the results of molecular screening in 121 patients with suspected hereditary optic neuropathies. The 34 primary and 9 secondary LHON mutations were screened in all the patients. In the familial cases, OPA1 was also tested when negative finding for the mtDNA mutations screening. Molecular defects were identified in 35 patients (28.9% of screened patients). Among these, 33 patients (94.3%) had an mtDNA mutation, including m.11778G > A (69.7%), m.14484 T > C, m.3460G > A, m.3635G > A, m...
September 7, 2018: Mitochondrion
Dan Li, Yaping Sun, Qianqian Zhuang, Yanrui Song, Bifeng Wu, Zexiao Jia, Huaye Pan, Hui Zhou, Shuangyi Hu, Bingtao Zhang, Yue Qiu, Yu Dai, Siyuan Chen, Xuejun Xu, Xufen Zhu, Aifu Lin, Wendong Huang, Zhong Liu, Qingfeng Yan
Hypertrophic cardiomyopathy (HCM), affecting approximately 1 in 500 in the general population, is the most prominent cause of sudden heart disease-related mortality in the young. Mitochondrial DNA (mtDNA) mutations are among the primary causes of HCM. We previously identified a novel m.2336T>C homoplasmic mutation in the mitochondrial 16S rRNA gene (MT-RNR2) in a Chinese maternally inherited HCM family. However, the molecular mechanisms by which m.2336T>C mutation contributes to HCM remain elusive. Here we generated transferring mitochondria cell lines (cybrids) with a constant nuclear background by transferring mitochondria from immortalized lymphoblastoid cell lines carrying the HCM-associated m...
September 6, 2018: Mitochondrion
Chenyu Li, Hong Luan, Xiaofei Man, Ping Gao, Yan Xu
We read with great interest the article by Gowthaman and colleagues. The study's findings are useful for the discovery of biomarker and developing therapeutic regimen in diabetic retinopathy. On the other hand, from our perspective, the bioinformatics analyses need further context as the statistics for differential fold changes in expression data are not explained fully. Due to the high false positives caused by a large number of probes and multiple comparisons, it seems essential to analyze microarray data properly to reach a reliable result by a statistical method...
September 5, 2018: Mitochondrion
Michelle Ham, Julia Han, Kathryn Osann, Moyra Smith, Virginia Kimonis
Autosomal Dominant Optic Atrophy (ADOA) is a neuro-ophthalmic disease characterized by progressive bilateral vision loss, pallor of the optic disc, central vision loss, and impairment of color vision. Additionally, a small percentage of patients experience hearing loss and ataxia, while recent studies suggest disruption of cardiac and neuromuscular functions. In order to obtain a better understanding of the genotype-phenotype correlation of the various mutations in the optic atrophy 1 (OPA1) gene, we obtained both clinical and genetic information of ADOA patients from published reports...
August 27, 2018: Mitochondrion
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