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https://www.readbyqxmd.com/read/29903444/genetics-of-cerebellar-disorders
#1
Enza Maria Valente, Sara Nuovo, Dan Doherty
The approach to identifying a genetic cause in patients with cerebellar disorders relies on history, examination, consultation, and testing, combined with specialized expertise because they are rare and genetically diverse. Cerebellar disorders can be caused by a variety of DNA alterations including single-nucleotide changes, small insertions or deletions, larger copy number variants, and nucleotide repeat expansions, exhibiting autosomal-recessive, autosomal-dominant (inherited and de novo), X-linked, and mitochondrial modes of inheritance...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29888130/hindering-the-illegal-trade-in-dog-and-cat-furs-through-a-dna-based-protocol-for-species-identification
#2
Luisa Garofalo, Alessia Mariacher, Rita Fanelli, Rosario Fico, Rita Lorenzini
In Western countries dogs and cats are the most popular pets, and people are increasingly opposed to their rearing for the fur industry. In 2007, a Regulation of the European Union (EU) banned the use and trade of dog and cat furs, but an official analytical protocol to identify them as source species was not provided, and violations of law are still frequent in all Member States. In this paper we report on the development and validation of a simple and affordable DNA method for species detection in furs to use as an effective tool to combat illegal trade in fur products...
2018: PeerJ
https://www.readbyqxmd.com/read/29885644/treatment-with-acetyl-l-carnitine-during-in-vitro-maturation-of-buffalo-oocytes-improves-oocyte-quality-and-subsequent-embryonic-development
#3
Hui-Yan Xu, Xiao-Gan Yang, Sheng-Sheng Lu, Xing-Wei Liang, Yang-Qing Lu, Ming Zhang, Ke-Huan Lu
Oocyte quality is one of the important factors in female fertility, in vitro maturation (IVM), and subsequent embryonic development. In the present study, we assessed whether acetyl-l-carnitine (ALC) supplementation during in vitro maturation of buffalo oocytes could improve oocyte quality and subsequent embryonic development. To determine the optimal level of ALC supplementation, we matured cumulus-oocyte complexes in maturation medium supplemented with 0, 2.5, and 5 mM ALC. The oocytes with a polar body were selected for parthenogenetic activation (PA) and in vitro fertilization (IVF)...
June 1, 2018: Theriogenology
https://www.readbyqxmd.com/read/29883716/inactivation-of-glycogen-synthase-kinase-3%C3%AE-gsk-3%C3%AE-enhances-mitochondrial-biogenesis-during-myogenesis
#4
W F Theeuwes, H R Gosker, R C J Langen, N A M Pansters, A M W J Schols, A H V Remels
BACKGROUND: Mitochondrial biogenesis is crucial for myogenic differentiation and regeneration of skeletal muscle tissue and is tightly controlled by the peroxisome proliferator-activated receptor-γ co-activator 1 (PGC-1) signaling network. In the present study, we hypothesized that inactivation of glycogen synthase kinase (GSK)-3β, previously suggested to interfere with PGC-1 in non-muscle cells, potentiates PGC-1 signaling and the development of mitochondrial biogenesis during myogenesis, ultimately resulting in an enhanced myotube oxidative capacity...
June 5, 2018: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29880722/mitochondrial-dna-replication-in-mammalian-cells-overview-of-the-pathway
#5
REVIEW
Maria Falkenberg
Mammalian mitochondria contain multiple copies of a circular, double-stranded DNA genome and a dedicated DNA replication machinery is required for its maintenance. Many disease-causing mutations affect mitochondrial replication factors and a detailed understanding of the replication process may help to explain the pathogenic mechanisms underlying a number of mitochondrial diseases. We here give a brief overview of DNA replication in mammalian mitochondria, describing our current understanding of this process and some unanswered questions remaining...
June 7, 2018: Essays in Biochemistry
https://www.readbyqxmd.com/read/29878130/the-potential-of-brown-adipogenesis-and-browning-in-porcine-bone-marrow-derived-mesenchymal-stem-cells
#6
Ying-Chu Chen, Yu-Hsiang Yu
Brown adipocyte lineage commitment and differentiation are under complex regulation. Brown adipocytes are derived from mesenchymal stem cells (MSCs). Whether porcine bone marrow-derived MSCs (BM-MSCs) possess the potential to differentiate into brown adipocytes remains unclear. In the current study, we evaluated the ability of porcine BM-MSCs to differentiate into brown adipocytes and browning of differentiated adipocytes. We found that similar to rodent models, bone morphogenetic protein 7 (BMP7) was able to trigger the commitment of BM-MSCs to the brown adipocyte lineage by elevating expression of marker genes, nrf-1, tfam, zic1 and pgc-1α (P < 0...
June 7, 2018: Journal of Animal Science
https://www.readbyqxmd.com/read/29877148/oregonin-from-alnus-incana-bark-affects-dna-methyltransferases-expression-and-mitochondrial-dna-copies-in-mouse-embryonic-fibroblasts
#7
Jelena Krasilnikova, Liga Lauberte, Elena Stoyanova, Desislava Abadjieva, Mihail Chervenkov, Mattia Mori, Elisa De Paolis, Vanya Mladenova, Galina Telysheva, Bruno Botta, Elena Kistanova
Oregonin is an open-chain diarylheptanoid isolated from Alnus incana bark that possesses remarkable antioxidant and anti-inflammatory properties, inhibits adipogenesis, and can be used in the prevention of obesity and related metabolic disorders. Here, we aimed to investigate the effects of oregonin on the epigenetic regulation in cells as well as its ability to modulate DNA methylating enzymes expression and mitochondrial DNA (mtDNA) copies. Our results show that oregonin altered the expression of DNA methyltransferases and mtDNA copy numbers in dependency on concentration and specificity of cells genotype...
December 2018: Journal of Enzyme Inhibition and Medicinal Chemistry
https://www.readbyqxmd.com/read/29876003/associations-of-blood-mitochondrial-dna-copy-number-with-social-demographics-and-cancer-risk-results-from-the-mano-a-mano-mexican-american-cohort
#8
Hua Zhao, David Chang, Yuanqing Ye, Jie Shen, Wong-Ho Chow, Xifeng Wu
The relationship between blood mitochondrial DNA (mtDNA) copy number and subsequent cancer risk has been investigated previously. However, such association has never been examined in Mexican Americans. In the current study, we examined association between social-demographic factors and blood mtDNA copy number, as well as longitudinal relationship between cancer and mtDNA copy number, among 10,802 Mexican Americans in the Mano-A-Mano Mexican American Cohort. Overall, mtDNA copy number was statistically significantly higher among participants who developed cancer during the study period than among cancer-free controls (0...
May 22, 2018: Oncotarget
https://www.readbyqxmd.com/read/29873251/the-melatonin-analog-iqm316-may-induce-adult-hippocampal-neurogenesis-and-preserve-recognition-memories-in-mice
#9
Joana Figueiro-Silva, Desireé Antequera, Consuelo Pascual, Mario de la Fuente Revenga, Huayqui Volt, Darío Acuña-Castroviejo, María Isabel Rodríguez-Franco, Eva Carro
Neurogenesis in the adult hippocampus is a unique process in neurobiology that requires functional integration of newly generated neurons, which may disrupt existing hippocampal network connections and consequently loss of established memories. As neurodegenerative diseases characterized by abnormal neurogenesis and memory dysfunctions are increasing, the identification of new anti-aging drugs is required. In adult mice, we found that melatonin, a well-established neurogenic hormone, and the melatonin analog 2-(2-(5-methoxy-1 H-indol-3-yl)ethyl)-5-methyl-1,3,4-oxadiazole (IQM316) were able to induce hippocampal neurogenesis, measured by neuronal nuclei (NeuN) and 5-bromo-2'-deoxyuridine (BrdU) labeling...
March 2018: Cell Transplantation
https://www.readbyqxmd.com/read/29866118/p62-is-linked-to-mitophagy-in-oleic-acid-induced-adipogenesis-in-human-adipose-derived-stromal-cells
#10
Ruixia Zeng, Yan Fang, Yibo Zhang, Shuling Bai
BACKGROUND: Obesity is closely related to the abnormal differentiation of adipocytes, which are subjected to high plasma levels of free fatty acids (FFAs). As the most abundant FFA in the bloodstream, oleic acid (OA) has the ability to induce adipogenic differentiation in human adipose-derived stromal cells (hADSCs). Recently, p62, an autophagy mediator, has been shown to play a role in obesity and adipose tissue metabolism. Therefore, the aim of this study was to investigate the roles of autophagy and mitochondrial function at different stages of OA (in combination with insulin and dexamethasone)-induced adipogenesis in hADSCs...
June 4, 2018: Lipids in Health and Disease
https://www.readbyqxmd.com/read/29864946/quercetin-attenuates-mitochondrial-dysfunction-and-biogenesis-via-upregulated-ampk-sirt1-signaling-pathway-in-oa-rats
#11
Linan Qiu, Yuju Luo, Xiaojuan Chen
Despite the severity of osteoarthritis (OA), current medical therapy strategies for OA aim at symptom control and pain reduction, as there is no ideal drug for effective OA treatment. OA rat model was used to explore the therapeutic function of quercetin on remission of OA, by determining the reactive oxygen species (ROS) levels, mitochondrial function and extracellular matrix integrity. Quercetin could attenuate ROS generation and augment the glutathione (GSH) and glutathione peroxidase (GPx) expression levels in OA rat...
July 2018: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/29851217/yerba-mate-stimulates-mitochondrial-biogenesis-and-thermogenesis-in-high-fat-diet-induced-obese-mice
#12
Tanila Wood Dos Santos, Jonatan Miranda, Lucimara Teixeira, Ana Aiastui, Ander Matheu, Alessandra Gambero, María P Portillo, Marcelo Lima Ribeiro
SCOPE: The potential effects of yerba mate (YM) on mitochondrial biogenesis and thermogenesis was evaluated. METHODS AND RESULTS: The in vitro effects of YM on mitochondrial respiration were assessed in C2C12 cells. The expression of genes related with mitochondrial biogenesis and thermogenesis were analyzed by quantitative-PCR. The in vivo experiments were performed in mice fed a high-fat diet (HFD), and treated with YM extract. Indirect calorimetry was performed, and the expression of genes and proteins related to mitochondrial biogenesis, thermogenesis and de novo lipogenesis were determined by quantitative-PCR and western blot...
May 31, 2018: Molecular Nutrition & Food Research
https://www.readbyqxmd.com/read/29849933/rotenone-ameliorates-chronic-renal-injury-caused-by-acute-ischemia-reperfusion
#13
Wen Zhang, Yugen Sha, Ke Wei, Chunfeng Wu, Dan Ding, Yunwen Yang, Chunhua Zhu, Yue Zhang, Guixia Ding, Aihua Zhang, Zhanjun Jia, Songming Huang
Acute kidney injury (AKI) has been widely recognized as an important risk factor leading to the occurrence and progression of chronic kidney disease (CKD). Thus, development of the strategies in retarding the transition of AKI to CKD is becoming a hot research field. Recently, accumulating evidence suggested a pathogenic role of mitochondrial dysfunction in both AKI and CKD. Therefore, in the present study, we evaluated the effect of mitochondrial complex 1 inhibition by rotenone on the chronic renal damage induced by acute ischemia-reperfusion...
May 11, 2018: Oncotarget
https://www.readbyqxmd.com/read/29846105/5-ht1f-receptor-regulates-mitochondrial-homeostasis-and-its-loss-potentiates-acute-kidney-injury-and-impairs-renal-recovery
#14
Whitney S Gibbs, Justin B Collier, Morgan Morris, Craig C Beeson, Judit Megyesi, Rick G Schnellmann
Our laboratory previously reported that agonists of the 5-hydoxytryptamine 1F (5-HT1F) receptor induce renal mitochondrial biogenesis (MB) and that stimulation of the 5-HT1F receptor following ischemia/reperfusion (I/R)-induced acute kidney injury (AKI) accelerated the recovery of renal function in mice. The goal of this study was to examine the contribution of the 5-HT1F receptor in the regulation of renal mitochondrial homeostasis and renal function in naïve and injured mice. While 5-HT1F receptor knockout (KO) mice were healthy and fertile, and did not exhibit renal dysfunction, renal mtDNA copy number and mitochondrial fission gene expression increased at 10 weeks of age...
May 30, 2018: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/29845794/the-effects-of-sodium-selenite-on-mitochondrial-dna-copy-number-and-reactive-oxygen-species-levels-of-in-vitro-matured-mouse-oocytes
#15
Nassim Ghorbanmehr, Mojdeh Salehnia, Mahboobeh Amooshahi
Objective: The aim of present study is to determine the effects of supplementation of oocyte maturation medium with sodium selenite (SS) on oocyte mitochondrial DNA (mtDNA) copy number and reactive oxygen species (ROS) levels. Materials and Methods: In this experimental study, germinal vesicle (GV), metaphase I (MI), and metaphase II (MII) stage oocytes were recovered from 6-8 week old female mice after superovulation. Some of the GV oocytes were cultured and matured in the presence and absence of SS...
October 2018: Cell Journal
https://www.readbyqxmd.com/read/29842994/tumor-specific-mitochondrial-dna-variants-are-rarely-detected-in-cell-free-dna
#16
M J A Weerts, E C Timmermans, A van de Stolpe, R H A M Vossen, S Y Anvar, J A Foekens, S Sleijfer, J W M Martens
The use of blood-circulating cell-free DNA (cfDNA) as a "liquid biopsy" in oncology is being explored for its potential as a cancer biomarker. Mitochondria contain their own circular genomic entity (mitochondrial DNA, mtDNA), up to even thousands of copies per cell. The mutation rate of mtDNA is several orders of magnitude higher than that of the nuclear DNA. Tumor-specific variants have been identified in tumors along the entire mtDNA, and their number varies among and within tumors. The high mtDNA copy number per cell and the high mtDNA mutation rate make it worthwhile to explore the potential of tumor-specific cf-mtDNA variants as cancer marker in the blood of cancer patients...
May 26, 2018: Neoplasia: An International Journal for Oncology Research
https://www.readbyqxmd.com/read/29801636/short-term-heat-stress-induces-mitochondrial-degradation-and-biogenesis-and-enhances-mitochondrial-quality-in-porcine-oocytes
#17
Nobuhiko Itami, Koumei Shirasuna, Takehito Kuwayama, Hisataka Iwata
Mitochondria in oocytes play important roles in many processes, including early embryo development. Promotion of mitochondrial degradation and biogenesis through Sirtuin 1 (SIRT1) activation enhances mitochondrial function and oocyte quality. Previous studies that used somatic cells have shown that short-term heat stress (SHS) induces SIRT1-regulated mitochondrial biogenesis. In this study, we examined whether SHS can induce mitochondrial degradation and biogenesis in porcine oocytes. We collected cumulus cell-oocyte complexes (COCs) from prepubertal gilt ovaries acquired from a slaughterhouse...
May 2018: Journal of Thermal Biology
https://www.readbyqxmd.com/read/29801445/differential-mitochondrial-dna-copy-number-in-three-mood-states-of-bipolar-disorder
#18
Dong Wang, Zongchang Li, Weiqing Liu, Jun Zhou, Xiaoqian Ma, Jinsong Tang, Xiaogang Chen
BACKGROUND: Accumulating evidences indicated that mitochondrial abnormalities were associated with bipolar disorder. As a sensitive index of mitochondrial function and biogenesis, Mitochondrial DNA copy number (mtDNAcn) may be involved in the pathophysiology of bipolar disorder. METHODS: Leukocyte relative mtDNAcn was measured by quantitative polymerase chain reaction in subjects with BD (n = 131) in manic, depressive, and euthymic symptoms. Thirty-four healthy individuals were used as comparison control...
May 25, 2018: BMC Psychiatry
https://www.readbyqxmd.com/read/29796936/decreased-number-and-increased-volume-with-mitochondrial-enlargement-of-cerebellar-synaptic-terminals-in-a-mouse-model-of-chronic-demyelination
#19
Huy Bang Nguyen, Yang Sui, Truc Quynh Thai, Kazuhiro Ikenaka, Toshiyuki Oda, Nobuhiko Ohno
Impaired nerve conduction, axonal degeneration, and synaptic alterations contribute to neurological disabilities in inflammatory demyelinating diseases. Cerebellar dysfunction is associated with demyelinating disorders, but the alterations of axon terminals in cerebellar gray matter during chronic demyelination are still unclear. We analyzed the morphological and ultrastructural changes of climbing fiber terminals in a mouse model of hereditary chronic demyelination. Three-dimensional ultrastructural analyses using serial block-face scanning electron microscopy and immunostaining for synaptic markers were performed in a demyelination mouse model caused by extra copies of myelin gene (PLP4e)...
May 23, 2018: Medical Molecular Morphology
https://www.readbyqxmd.com/read/29781318/hypochlorite-modified-albumins-promote-cell-death-in-the-tubule-interstitium-in-rats-via-mitochondrial-damage-in-obstructive-nephropathy-and-the-protective-effects-of-antioxidant-peptides
#20
Zong-Rui Liu, Si-Qi Chen, Yao-Wei Zou, Xiao-Yu Wu, Hong-Ying Li, Xiao-Qiao Wang, Yue Shi, Hong-Xin Niu
A major feature of the injury sustained by the kidney during obstructive nephropathy is a profound induction of apoptosis in the tubular epithelium. In this study, we explored the central roles of mitochondria and the mechanism of the protective effect of the mitochondrial targeted peptides in tubular cell apoptosis and interstitial fibrosis during obstructive nephropathy. Unilateral ureter obstruction (UUO) was performed on rats, and the animals were randomly assigned to intravenous treatment with normal saline, rat serum albumin (RSA), or HOCl-rat serum albumin (HOCl-RSA) in the presence or absence of SS-31...
May 2018: Free Radical Research
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