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https://www.readbyqxmd.com/read/28265681/ischemia-induced-drp1-and-fis1-mediated-mitochondrial-fission-and-right-ventricular-dysfunction-in-pulmonary-hypertension
#1
Lian Tian, Monica Neuber-Hess, Jeffrey Mewburn, Asish Dasgupta, Kimberly Dunham-Snary, Danchen Wu, Kuang-Hueih Chen, Zhigang Hong, Willard W Sharp, Shelby Kutty, Stephen L Archer
Right ventricular (RV) function determines prognosis in pulmonary arterial hypertension (PAH). We hypothesize that ischemia causes RV dysfunction in PAH by triggering dynamin-related protein 1 (Drp1)-mediated mitochondrial fission. RV function was compared in control rats (n = 50) versus rats with monocrotaline-induced PAH (MCT-PAH; n = 60) both in vivo (echocardiography) and ex vivo (RV Langendorff). Mitochondrial membrane potential and morphology and RV function were assessed before or after 2 cycles of ischemia-reperfusion injury challenge (RV-IR)...
April 2017: Journal of Molecular Medicine: Official Organ of the "Gesellschaft Deutscher Naturforscher und Ärzte"
https://www.readbyqxmd.com/read/28229909/paradoxical-inhibition-of-glycolysis-by-pioglitazone-opposes-the-mitochondriopathy-caused-by-aif-deficiency
#2
Paule Bénit, Alice Pelhaître, Elise Saunier, Sylvie Bortoli, Assetou Coulibaly, Malgorzata Rak, Manuel Schiff, Guido Kroemer, Massimo Zeviani, Pierre Rustin
Mice with the hypomorphic AIF-Harlequin mutation exhibit a highly heterogeneous mitochondriopathy that mostly affects respiratory chain complex I, causing a cerebral pathology that resembles that found in patients with AIF loss-of-function mutations. Here we describe that the antidiabetic drug pioglitazone (PIO) can improve the phenotype of a mouse Harlequin (Hq) subgroup, presumably due to an inhibition of glycolysis that causes an increase in blood glucose levels. This glycolysis-inhibitory PIO effect was observed in cultured astrocytes from Hq mice, as well as in human skin fibroblasts from patients with AIF mutation...
March 2017: EBioMedicine
https://www.readbyqxmd.com/read/28217821/physicians-experiences-as-patients-with-statin-side-effects-a-case-series
#3
Hayley J Koslik, Athena Hathaway Meskimen, Beatrice Alexandra Golomb
Physicians are among those prescribed statins and therefore, subject to potential statin adverse effects (AEs). There is little information on the impact of statin AEs on physicians affected by them. We sought to assess the character and impact of statin AEs occurring in physicians and retired physicians, and to ascertain whether/how personal experience of AEs moderated physicians' attitude toward statin use. Seven active or retired physicians from the United States communicated with the Statin Effects Study group regarding their personal experience of statin AEs...
December 2017: Drug Safety—Case Reports
https://www.readbyqxmd.com/read/27617217/inherited-xq13-2-q21-31-duplication-in-a-boy-with-recurrent-seizures-and-pubertal-gynecomastia-clinical-chromosomal-and-acgh-characterization
#4
Natália D Linhares, Eugênia R Valadares, Silvia S da Costa, Rodrigo R Arantes, Luiz Roberto de Oliveira, Carla Rosenberg, Angela M Vianna-Morgante, Marta Svartman
We report on a 16-year-old boy with a maternally inherited ~ 18.3 Mb Xq13.2-q21.31 duplication delimited by aCGH. As previously described in patients with similar duplications, his clinical features included intellectual disability, developmental delay, speech delay, generalized hypotonia, infantile feeding difficulties, self-injurious behavior, short stature and endocrine problems. As additional findings, he presented recurrent seizures and pubertal gynecomastia. His mother was phenotypically normal and had completely skewed inactivation of the duplicated X chromosome, as most female carriers of such duplications...
September 2016: Meta Gene
https://www.readbyqxmd.com/read/27597559/teaching-neuroimages-spinal-cord-gray-matter-involvement-in-complex-i-deficiency-mitochondriopathy
#5
Mario Mascalchi, Emanuele Bartolini, Andrea Bianchi, Pietro Gulino, Elena Procopio
No abstract text is available yet for this article.
September 6, 2016: Neurology
https://www.readbyqxmd.com/read/27541948/oncocardiology-past-present-and-future-a-review
#6
Edward T H Yeh, Hui-Ming Chang
Importance: Oncocardiology is a medical discipline that focuses on the identification, prevention, and treatment of cardiovascular complications related to cancer therapy. This discipline has gained interest from the cardiology community in recent years because of a remarkable increase in the number of cancer survivors and the proliferation of new cancer therapies causing cardiovascular complications, such as hypertension, heart failure, vascular complications, and cardiac arrhythmia...
December 1, 2016: JAMA Cardiology
https://www.readbyqxmd.com/read/27495975/homozygous-yme1l1-mutation-causes-mitochondriopathy-with-optic-atrophy-and-mitochondrial-network-fragmentation
#7
Bianca Hartmann, Timothy Wai, Hao Hu, Thomas MacVicar, Luciana Musante, Björn Fischer-Zirnsak, Werner Stenzel, Ralph Gräf, Lambert van den Heuvel, Hans-Hilger Ropers, Thomas F Wienker, Christoph Hübner, Thomas Langer, Angela M Kaindl
Mitochondriopathies often present clinically as multisystemic disorders of primarily high-energy consuming organs. Assembly, turnover, and surveillance of mitochondrial proteins are essential for mitochondrial function and a key task of AAA family members of metalloproteases. We identified a homozygous mutation in the nuclear encoded mitochondrial escape 1-like 1 gene YME1L1, member of the AAA protease family, as a cause of a novel mitochondriopathy in a consanguineous pedigree of Saudi Arabian descent. The homozygous missense mutation, located in a highly conserved region in the mitochondrial pre-sequence, inhibits cleavage of YME1L1 by the mitochondrial processing peptidase, which culminates in the rapid degradation of YME1L1 precursor protein...
2016: ELife
https://www.readbyqxmd.com/read/27179217/histopathological-comparison-of-kearns-sayre-syndrome-and-pgc-1%C3%AE-deficient-mice-suggests-a-novel-concept-for-vacuole-formation-in-mitochondrial-encephalopathy
#8
COMPARATIVE STUDY
L Szalardy, M Molnar, R Torok, D Zadori, L Vecsei, P Klivenyi, P Liberski, G G Kovacs
Despite the current hypotheses about myelinic and astrocytic ion-dyshomeostasis underlying white (WM) and grey matter (GM) vacuolation in mitochondrial encephalopathies, there is a paucity of data on the exact mechanism of vacuole formation. To revisit the concepts of vacuole formation associated with mitochondrial dysfunction, we performed a comparative neuropathological analysis in Kearns-Sayre syndrome (KSS) and full-length peroxisome proliferator-activated receptor-g coactivator-1a (FL-PGC-1a)-deficient mice, a recently proposed morphological model of mitochondrial encephalopathies...
2016: Folia Neuropathologica
https://www.readbyqxmd.com/read/27160910/renal-fanconi-syndrome-is-caused-by-a-mistargeting-based-mitochondriopathy
#9
Nadine Assmann, Katja Dettmer, Johann M B Simbuerger, Carsten Broeker, Nadine Nuernberger, Kathrin Renner, Holly Courtneidge, Enriko D Klootwijk, Axel Duerkop, Andrew Hall, Robert Kleta, Peter J Oefner, Markus Reichold, Joerg Reinders
We recently reported an autosomal dominant form of renal Fanconi syndrome caused by a missense mutation in the third codon of the peroxisomal protein EHHADH. The mutation mistargets EHHADH to mitochondria, thereby impairing mitochondrial energy production and, consequently, reabsorption of electrolytes and low-molecular-weight nutrients in the proximal tubule. Here, we further elucidate the molecular mechanism underlying this pathology. We find that mutated EHHADH is incorporated into mitochondrial trifunctional protein (MTP), thereby disturbing β-oxidation of long-chain fatty acids...
May 17, 2016: Cell Reports
https://www.readbyqxmd.com/read/27129022/effects-of-tributyltin-chloride-on-cybrids-with-or-without-an-atp-synthase-pathologic-mutation
#10
Ester López-Gallardo, Laura Llobet, Sonia Emperador, Julio Montoya, Eduardo Ruiz-Pesini
BACKGROUND: The oxidative phosphorylation system (OXPHOS) includes nuclear chromosome (nDNA)- and mitochondrial DNA (mtDNA)-encoded polypeptides. Many rare OXPHOS disorders, such as striatal necrosis syndromes, are caused by genetic mutations. Despite important advances in sequencing procedures, causative mutations remain undetected in some patients. It is possible that etiologic factors, such as environmental toxins, are the cause of these cases. Indeed, the inhibition of a particular enzyme by a poison could imitate the biochemical effects of pathological mutations in that enzyme...
September 2016: Environmental Health Perspectives
https://www.readbyqxmd.com/read/27076618/chronology-of-mitochondrial-and-cellular-events-during-skeletal-muscle-ischemia-reperfusion
#11
REVIEW
Stéphanie Paradis, Anne-Laure Charles, Alain Meyer, Anne Lejay, James W Scholey, Nabil Chakfé, Joffrey Zoll, Bernard Geny
Peripheral artery disease (PAD) is a common circulatory disorder of the lower limb arteries that reduces functional capacity and quality of life of patients. Despite relatively effective available treatments, PAD is a serious public health issue associated with significant morbidity and mortality. Ischemia-reperfusion (I/R) cycles during PAD are responsible for insufficient oxygen supply, mitochondriopathy, free radical production, and inflammation and lead to events that contribute to myocyte death and remote organ failure...
June 1, 2016: American Journal of Physiology. Cell Physiology
https://www.readbyqxmd.com/read/27000075/the-role-of-therapeutic-drugs-on-acquired-mitochondrial-toxicity
#12
REVIEW
Constanza Morén, Diana Luz Juárez-Flores, Francesc Cardellach, Glòria Garrabou
BACKGROUND: Certain therapeutic drugs used in medical practice may trigger mitochondrial toxicity leading to a wide range of clinical symptoms including deafness, neuropathy, myopathy, hyperlactatemia, lactic acidosis, pancreatitis and lipodystrophy, among others, which could even compromise the life of the patient. OBJECTIVES: The aim of this work is to review the potential mitochondrial toxicity derived from drugs used in health care, including anesthetics, antiepileptics, neuroleptics, antidepressants, antivirals, antibiotics, antifungals, antimalarics, antineoplastics, antidiabetics, hypolipemiants, antiarrhythmics, anti-inflammatories and nitric oxide...
2016: Current Drug Metabolism
https://www.readbyqxmd.com/read/26839228/pathology-of-intestinal-motor-disorders-in-children
#13
REVIEW
Raj P Kapur
Varied intestinal neuromuscular pathologies are responsible for Hirschsprung disease and other forms of chronic pseudo-obstruction that are encountered in pediatrics. Pathologically distinct subtypes discussed in this review include aganglionosis, hypoganglionosis, neuronal intranuclear inclusion disease, ganglionitis, degenerative neuropathy, diffuse ganglioneuromatosis, neuronal dysplasia, malformations of the muscularis propria, degenerative leiomyopathy, leiomyositis, and mitochondriopathies. Emphasis is given to the histopathologic features that distinguish these conditions and their differential diagnoses...
September 2010: Surgical Pathology Clinics
https://www.readbyqxmd.com/read/26770896/cyclic-vomiting-syndrome-a-functional-disorder
#14
REVIEW
Ajay Kaul, Kanwar K Kaul
Cyclic vomiting syndrome (CVS) is a functional disorder characterized by stereotypical episodes of intense vomiting separated by weeks to months. Although it can occur at any age, the most common age at presentation is 3-7 years. There is no gender predominance. The precise pathophysiology of CVS is not known but a strong association with migraine headaches, in the patient as well as the mother indicates that it may represent a mitochondriopathy. Studies have also suggested the role of an underlying autonomic neuropathy involving the sympathetic nervous system in its pathogenesis...
December 2015: Pediatric Gastroenterology, Hepatology & Nutrition
https://www.readbyqxmd.com/read/25988014/truth-is-a-daughter-of-time-a-case-of-melas-diagnosed-25-years-after-initial-manifestation
#15
Martin Windpessl, Petra Müller, Manfred Wallner
The acronym MELAS (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes) belies the true scope of one of the most prevalent mitochondriopathies in adults. While the original description focused on neuromuscular symptoms, we now recognize this syndrome as genetically well defined but phenotypically profoundly heterogeneous, as exemplified by our experience. Here we report the case of a man who initially presented in 1986. In hindsight, his was a classic manifestation of MELAS, but the illness was ascribed to an ill-defined viral encephalitis...
May 2014: Oxford Medical Case Reports
https://www.readbyqxmd.com/read/25566185/the-podocyte-power-plant-disaster-and-its-contribution-to-glomerulopathy
#16
REVIEW
Janina Müller-Deile, Mario Schiffer
Proper podocyte function within the glomerulus demands a high and continuous energy supply that is mainly derived from the respiratory chain of the inner mitochondrial membrane. Dysregulations in the metabolic homeostasis of podocytes may result in podocyte damage and glomerular disease. This article highlights the current knowledge about podocyte energy supply by the respiratory chain. We review the regulation of mitochondrial oxidative metabolism with regard to podocytopathy and discuss the latest understanding of different mitochondrial dysfunctions of the podocyte in diabetic nephropathy and focal segmental glomerulosclerosis (FSGS)...
2014: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/25548692/motor-neuron-syndrome-as-a-new-phenotypic-manifestation-of-mutation-9185t-c-in-gene-mtatp6
#17
Marisa Brum, Cristina Semedo, Rui Guerreiro, José Pinto Marques
Background. The mutation 9185T>C in ATP6 gene, associated with Leigh syndrome, was reported in only few families. Motor neuron disease (MND), both clinically and electrophysiologically, was not previously described in association with this mutation. Case Report. 33-year-old male, with family history of mitochondrial disease, presented with cognitive impairment, exercise intolerance, and progressive muscle weakness. Examination revealed global hypotonia, and proximal tetraparesis, without atrophy or fasciculation, pyramidal signs, or sensory symptoms...
2014: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/25512002/loss-of-function-variants-in-human-pnpla8-encoding-calcium-independent-phospholipase-a2-%C3%AE-recapitulate-the-mitochondriopathy-of-the-homologous-null-mouse
#18
Carol J Saunders, Sung Ho Moon, Xinping Liu, Isabelle Thiffault, Keith Coffman, Jean-Baptiste LePichon, Eugenio Taboada, Laurie D Smith, Emily G Farrow, Neil Miller, Margaret Gibson, Melanie Patterson, Stephen F Kingsmore, Richard W Gross
Mitochondriopathies are a group of clinically heterogeneous genetic diseases caused by defects in mitochondrial metabolism, bioenergetic efficiency, and/or signaling functions. The large majority of proteins involved in mitochondrial function are encoded by nuclear genes, with many yet to be associated with human disease. We performed exome sequencing on a young girl with a suspected mitochondrial myopathy that manifested as progressive muscle weakness, hypotonia, seizures, poor weight gain, and lactic acidosis...
March 2015: Human Mutation
https://www.readbyqxmd.com/read/25460729/cytoplasmic-hybrid-cybrid-cell-lines-as-a-practical-model-for-mitochondriopathies
#19
REVIEW
Heather M Wilkins, Steven M Carl, Russell H Swerdlow
Cytoplasmic hybrid (cybrid) cell lines can incorporate human subject mitochondria and perpetuate its mitochondrial DNA (mtDNA)-encoded components. Since the nuclear background of different cybrid lines can be kept constant, this technique allows investigators to study the influence of mtDNA on cell function. Prior use of cybrids has elucidated the contribution of mtDNA to a variety of biochemical parameters, including electron transport chain activities, bioenergetic fluxes, and free radical production. While the interpretation of data generated from cybrid cell lines has technical limitations, cybrids have contributed valuable insight into the relationship between mtDNA and phenotype alterations...
2014: Redox Biology
https://www.readbyqxmd.com/read/25322894/recovery-of-adriamycin-induced-mitochondrial-dysfunction-in-liver-by-selenium
#20
E Taskin, N Dursun
Adriamycin (ADR) is a chemotherapeutic drug. Its toxicities may associate with mitochondriopathy. Selenium (Se) is a trace element for essential intracellular antioxidant enzymes. However, there is lack of data related to the effect of selenium on the liver tissue of ADR-induced mitochondrial dysfunction. The study was to investigate whether Se could restore mitochondrial dysfunction of liver-exposed ADR. Rats were divided into four groups as a control, ADR, Se, co-treated ADR with Se groups. The biochemical measurements of the liver were made in mitochondrial and cytosol...
December 2015: Cytotechnology
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