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Mitochondrion

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https://www.readbyqxmd.com/read/30227252/deep-sequencing-discovery-of-causal-mtdna-mutations-in-a-patient-with-unspecific-neurological-disease
#1
Lucía Spangenberg, Martín Graña, Santiago Mansilla, Jennyfer Martínez, Alejandra Tapié, Gonzalo Greif, Nélida Montano, Alicia Vaglio, Rosario Guecaimburú, 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
https://www.readbyqxmd.com/read/30218715/frequency-and-association-of-mitochondrial-genetic-variants-with-neurological-disorders
#2
REVIEW
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
https://www.readbyqxmd.com/read/30205178/whole-exome-sequencing-identifies-both-nuclear-and-mitochondrial-variations-in-an-iranian-family-with-non-syndromic-hearing-loss
#3
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
https://www.readbyqxmd.com/read/30201499/genetic-analysis-in-a-cohort-of-patients-with-hereditary-optic-neuropathies-in-southwest-of-china
#4
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
https://www.readbyqxmd.com/read/30196098/mitochondrial-dysfunction-caused-by-m-2336t-c-mutation-with-hypertrophic-cardiomyopathy-in-cybrid-cell-lines
#5
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
https://www.readbyqxmd.com/read/30195016/comment-on-establishment-of-human-retinal-mitoscriptome-gene-expression-signature-for-diabetic-retinopathy-using-cadaver-eyes
#6
LETTER
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
https://www.readbyqxmd.com/read/30165240/meta-analysis-of-genotype-phenotype-analysis-of-opa1-mutations-in-autosomal-dominant-optic-atrophy
#7
REVIEW
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
https://www.readbyqxmd.com/read/30114489/a-mitochondrial-dna-d-loop-insertion-detected-almost-exclusively-in-non-replicating-tissues-with-maternal-inheritance-across-three-generations
#8
Mehul A Sharma, Ja Young J Lee, Andrea Tam, Beheroze Sattha, Ian R Mackenzie, Hilary D Vallance, Sandra Sirrs, Fady Hannah-Shmouni, Hélène C F Côté, Andre Mattman
Muscle biopsy identified a possibly pathogenic, mitochondrial DNA D-loop insertion, in each of 5 family members from two generations, that was otherwise undetectable in most other tissues. The tissue specific regulation of heteroplasmy is reflected in an age related increase in muscle heteroplasmy level, across the pedigree. This latter finding is in keeping with previous reports (e.g. T408A, C16327) but differs in having a very high muscle heteroplasmy level, and appears maternally transmitted.
August 13, 2018: Mitochondrion
https://www.readbyqxmd.com/read/30099222/metabolic-features-and-regulation-of-the-healing-cycle-a-new-model-for-chronic-disease-pathogenesis-and-treatment
#9
Robert K Naviaux
Without healing, multicellular life on Earth would not exist. Without healing, one injury predisposes to another, leading to disability, chronic disease, accelerated aging, and death. Over 60% of adults and 30% of children and teens in the United States now live with a chronic illness. Advances in mass spectrometry and metabolomics have given scientists a new lens for studying health and disease. This study defines the healing cycle in metabolic terms and reframes the pathophysiology of chronic illness as the result of metabolic signaling abnormalities that block healing and cause the normal stages of the cell danger response (CDR) to persist abnormally...
August 9, 2018: Mitochondrion
https://www.readbyqxmd.com/read/30098421/assessing-mitochondrial-heteroplasmy-using-next-generation-sequencing-a-note-of-caution
#10
Mauro Santibanez-Koref, Helen Griffin, Douglass M Turnbull, Patrick F Chinnery, Mary Herbert, Gavin Hudson
The mitochondrial genome has recently become the focus of several high-impact next-generation sequencing studies investigating the effect of mutations in disease and assessing the efficacy of mitochondrial replacement therapies. However, these studies have failed to take into consideration the capture of recurring translocations of mitochondrial DNA to the nuclear genome, known as nuclear mitochondrial sequences (NUMTs), continuing to align sequence data to the revised Cambridge reference sequence alone. Here, using different mtDNA enrichment techniques and a variety of tissues, we demonstrate that NUMTs are present in sequence data and that, dependent upon downstream analysis, are at a level which affects variant calling...
August 9, 2018: Mitochondrion
https://www.readbyqxmd.com/read/30098422/cell-free-mitochondrial-dna-in-progressive-multiple-sclerosis
#11
Hannah Lowes, Angela Pyle, Martin Duddy, Gavin Hudson
Recent studies have linked cell-free mitochondrial DNA (ccf-mtDNA) to neurodegeneration in both Alzheimer's and Parkinson's disease, raising the possibility that the same phenomenon could be seen in other diseases which manifest a neurodegenerative component. Here, we assessed the role of circulating cell-free mitochondrial DNA (ccf-mtDNA) in end-stage progressive multiple sclerosis (PMS), where neurodegeneration is evident, contrasting both ventricular cerebral spinal fluid ccf-mtDNA abundance and integrity between PMS cases and controls, and correlating ccf-mtDNA levels to known protein markers of neurodegeneration and PMS...
August 8, 2018: Mitochondrion
https://www.readbyqxmd.com/read/30092295/combination-of-microdissection-and-single-cell-quantitative-real-time-pcr-revealed-intercellular-mitochondrial-dna-heterogeneities-in-fibroblasts-of-kearns-sayre-syndrome-patients
#12
Susann Kummer, Ekkehard Wilichowski
Kearns-Sayre syndrome (KSS) is a multisystemic disorder marked by aerobic cell metabolism dysfunction. Fibroblasts derived from KSS patient skin biopsy exhibit heterogeneous occurrence of mitochondrial genomes as those circular DNA molecules partially carry the common deletion. In our approach, we aim to evaluate the intercellular alterations in respect to mitochondrial DNA integrity by laser capture microdissection and multiplex quantitative real-time PCR in single cells. The obtained results give new insights into the understanding of mitochondrial genetics, e...
August 6, 2018: Mitochondrion
https://www.readbyqxmd.com/read/30081212/toxic-medications-in-leber-s-hereditary-optic-neuropathy
#13
REVIEW
Kaitlin Kogachi, Anna Ter-Zakarian, Samuel Asanad, Alfredo Sadun, Rustum Karanjia
Leber's hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disorder characterized by acute bilateral vision loss. The pathophysiology involves reactive oxygen species (ROS), which can be affected by medications. This article reviews the evidence for medications with demonstrated and theoretical effects on mitochondrial function, specifically in relation to increased ROS production. The data reviewed provides guidance when selecting medications for individuals with LHON mutations (carriers) and are susceptible to conversion to affected...
August 4, 2018: Mitochondrion
https://www.readbyqxmd.com/read/30075297/mitochondrial-genomics-in-the-cancer-cell-line-encyclopedia-and-a-scoring-method-to-effectively-pair-cell-lines-for-cytoplasmic-hybridization
#14
S Grandhi, L Gould, J Wang, A Grandhi, T LaFramboise
Mitochondrial sequence variants have been associated with many human diseases, including cancer. A well-established experimental strategy to assess the impact of mitochondrial sequence variants is to generate cytoplasmic hybrids (cybrids). Cybridization facilitates the study of mitochondrial DNA (mtDNA) mutations under a controlled nuclear genetic background. However, in generating cybrids, it is important to select most suitable mtDNA donor and recipient cells so that any change in recipient's cellular phenotype may be attributed to the introduction, through the donor, of mutations in the gene of interest...
July 31, 2018: Mitochondrion
https://www.readbyqxmd.com/read/30026132/nuclear-mitochondrial-interactions-influence-susceptibility-to-hiv-associated-neurocognitive-impairment
#15
S Smieszek, P Jia, D C Samuels, Z Zhao, J Barnholtz-Sloan, H Kaur, S Letendre, R Ellis, D R Franklin, T Hulgan, A Kallianpur, W S Bush
HIV-associated neurocognitive impairment (NCI) is a term established to capture a wide spectrum of HIV related neurocognitive deficits ranging in severity from asymptomatic to dementia. The genetic underpinnings of this complex phenotype are incompletely understood. Mitochondrial function has long been thought to play a role in neurodegeneration, along with iron metabolism and transport. In this work, we aimed to characterize the interplay of mitochondrial DNA (mtDNA) haplogroup and nuclear genetic associations to NCI phenotypes in the CHARTER cohort, encompassing 1025 individuals of European-descent, African-descent, or admixed Hispanic...
July 17, 2018: Mitochondrion
https://www.readbyqxmd.com/read/30026131/chebulinic-acid-and-boeravinone-b-act-as-anti-aging-and-anti-apoptosis-phyto-molecules-during-oxidative-stress
#16
Shivtej P Biradar, Asif S Tamboli, Rahul V Khandare, Pankaj K Pawar
INTRODUCTION: Aquatic pollutant Malachite green (MG) induces oxidative stress by producing intracellular H2 O2 and associated hydroxyl, hydroxymethyl or hydroperoxide radicals in Saccharomyces cerevisiae. These radicals disturb cellular functions leading to early aging. Exogenous supply of natural antioxidants may play a crucial role as anti-aging by ensuring the cellular survival. METHODS: Protective effect of Chebulinic acid (CA) and Boeravinone B (BB) was biochemically evaluated by measuring the expression levels of antioxidant enzymes...
July 17, 2018: Mitochondrion
https://www.readbyqxmd.com/read/30017555/muscle-contractility-of-leg-muscles-in-patients-with-mitochondrial-myopathies
#17
Nanna Scharff Poulsen, Julia Rebecka Dahlqvist, Gitte Hedermann, Nicoline Løkken, John Vissing
BACKGROUND: The primary disease mechanism underlying mitochondrial myopathies (MM) is impaired energy generation to support muscle endurance. Little is known about muscle contractility before energy becomes deficient during muscle contractions. We investigated muscle contractility in MM to uncover potentially fixed weakness aspects of the disorders. METHODS: Contractility of calf and thigh muscles was investigated by comparing strength with contractile cross-sectional area (CCSA) of the used muscles, as measured by stationary dynamometry and MRI, respectively...
July 11, 2018: Mitochondrion
https://www.readbyqxmd.com/read/30006008/multichromosomal-structure-of-the-onion-mitochondrial-genome-and-a-transcript-analysis
#18
Mai Tsujimura, Takakazu Kaneko, Tomoaki Sakamoto, Seisuke Kimura, Masayoshi Shigyo, Hiroshi Yamagishi, Toru Terachi
The structures of plant mitochondrial genomes are more complex than those of animals. One of the reasons for this is that plant mitochondrial genomes typically have many long and short repeated sequences and intra- and intermolecular recombination may create various DNA molecules in this organelle. Recombination may sometimes create a novel gene that causes cytoplasmic male sterility (CMS). The onion has several cytoplasm types, with some causing CMS while others do not. The complete mitochondrial genome sequence of the onion was reported for an inbred line with CMS-S cytoplasm; however, the number of differences between onion strains remains unclear, and studies on purified mitochondrial DNA (mtDNA) have not yet been performed...
July 10, 2018: Mitochondrion
https://www.readbyqxmd.com/read/30004022/cerebrospinal-fluid-neurofilament-light-is-associated-with-survival-in-mitochondrial-disease-patients
#19
Kalliopi Sofou, Pashtun Shahim, Már Tulinius, Kaj Blennow, Henrik Zetterberg, Niklas Mattsson, Niklas Darin
We studied the biomarker patterns related to axonal injury, astrogliosis and amyloid metabolism in cerebrospinal fluid (CSF) of children and adolescents with mitochondrial encephalopathy and identified correlations with phenotype and survival outcome. Forty-six pediatric patients with genetically verified mitochondrial encephalopathy and twenty-two controls investigated at the Queen Silvia Children's Hospital, Sweden, were included. CSF lactate and neurofilament light (NF-L) were significantly increased in patients with mitochondrial encephalopathy compared to controls...
July 9, 2018: Mitochondrion
https://www.readbyqxmd.com/read/29990538/effects-of-mitochondrial-disease-dysfunction-on-pregnancy-a-retrospective-study
#20
Amel Karaa, Ibrahim Elsharkawi, Mark A Clapp, Cristy Balcells
A retrospective survey assessed the gynecologic, obstetric and fertility history of 103 women with mitochondrial disease (MD)/dysfunction (Md) aged 16 to 75 who had previously been pregnant. Most participants (34%) had a mitochondrial myopathy and there were 248 combined pregnancies with live deliveries (average 3.6 pregnancies/woman). In general, pregnancy in those with MD/Md appears to exacerbate some constitutional and neurological symptoms and may be more frequently associated with common obstetric complications, but this did not appear to result in worse pregnancy outcomes...
July 7, 2018: Mitochondrion
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