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respiratory chain complex disorders

Makoto Nishioka, Yuji Inaba, Mitsuo Motobayashi, Yosuke Hara, Ryusuke Numata, Yoshiro Amano, Kunihiko Shingu, Yoichiro Yamamoto, Kei Murayama, Akira Ohtake, Yozo Nakazawa
INTRODUCTION: Mitochondrial dysfunction results in a wide range of organ disorders through diverse genetic abnormalities. We herein present the detailed clinical course of an infant admitted for extensive, rapidly progressing white matter lesions and hypertrophic cardiomyopathy due to a BOLA3 gene mutation. CASE: A 6-month-old girl with no remarkable family or past medical history until 1 month prior presented with developmental regression and feeding impairment...
February 28, 2018: Brain & Development
Sandra Pereira, Mariana Adrião, Mafalda Sampaio, Margarida Ayres Basto, Esmeralda Rodrigues, Laura Vilarinho, Elisa Leão Teles, Isabel Alonso, Miguel Leão
INTRODUCTION: Combined oxidative phosphorylation deficiency 20 (COXPD20) is a mitochondrial respiratory chain complex (RC) disorder, caused by disease-causing variants in the VARS2 gene, which encodes a mitochondrial aminoacyl-tRNA synthetase. Here we describe a patient with fatal mitochondrial encephalopathy caused by a homozygous VARS2 gene missense variant. CASE REPORT: We report the case of a girl, the first child of non-consanguineous and healthy parents, born from an uneventful term pregnancy, who presented, in the neonatal period, major hypotonia and microcephaly...
February 25, 2018: JIMD Reports
Iain Hargreaves, Nimesh Mody, John Land, Simon Heales
OBJECTIVES: Evidence of mitochondrial respiratory chain (MRC) dysfunction and oxidative stress has been implicated in the pathophysiology of multiple sclerosis (MS). However, at present, there is no reliable low invasive surrogate available to evaluate mitochondrial function in these patients. In view of the particular sensitivity of MRC complex IV to oxidative stress, the aim of this study was to assess blood mononuclear cell (BMNC) MRC complex IV activity in MS patients and compare these results to age matched controls and MS patients on β-interferon treatment...
February 20, 2018: Journal of Clinical Medicine
Xiaoting Jin, Ruijun Su, Ruijin Li, Long Cheng, Zhuoyu Li
Fine particulate matter exposure may cause health risk, including cardiovascular diseases and cancer. Bone marrow mesenchymal stem cell (BMSC), a typical model for evaluating pollutant toxicity, has been closely linked to these diseases, due to its characteristics of differentiation. We therefore studied the BMSCs differentiation and its roles in inflammatory activation in the respiratory tract upon PM2.5 exposure using both in vitro and in vivo models. BMSCs differentiation into endothelial-like cells (ELCs) and cancer-associated fibroblasts cells (CAFs) was enhanced in response to conditioned medium from PM2...
January 5, 2018: Oncotarget
Elena Martín-Hernández, María Elena Rodríguez-García, Chun-An Chen, Francisco Javier Cotrina-Vinagre, Patricia Carnicero-Rodríguez, Marcello Bellusci, Christian P Schaaf, Francisco Martínez-Azorín
We report the clinical and biochemical findings from a patient who presented with Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS), an autosomal-dominant disorder characterized by optic atrophy, developmental delay and intellectual disability. In addition, the patient also displays hypotonia, stroke-like episodes, and complex IV deficiency of the mitochondrial respiratory chain. Whole-exome sequencing (WES) uncovered a novel heterozygous mutation in the NR2F1 gene (NM_005654:c.286A>G:p.Lys96Glu) that encodes for the COUP transcription factor 1 protein (COUP-TF1)...
February 6, 2018: Journal of Human Genetics
Irene Toldo, Margherita Nosadini, Chiara Boscardin, Giacomo Talenti, Renzo Manara, Eleonora Lamantea, Andrea Legati, Daniele Ghezzi, Giorgio Perilongo, Stefano Sartori
A homoallelic missense founder mutation of the iron-sulfur cluster assembly 2 (ISCA2) gene has been recently reported in six cases affected by an autosomal recessive infantile neurodegenerative mitochondrial disorder. We documented a case of a 2-month-old girl presenting with severe hypotonia and nystagmus, who rapidly deteriorated and died at the age of three months. Increased cerebral spinal fluid level of lactate, documented also at the brain spectroscopy, involvement of the cortex, restricted diffusion of white and gray matter abnormalities, sparing of the corpus callosum and extensive involvement of the spinal cord were observed...
January 23, 2018: Metabolic Brain Disease
Guilhian Leipnitz, Al-Walid Mohsen, Anuradha Karunanidhi, Bianca Seminotti, Vera Y Roginskaya, Desiree M Markantone, Mateus Grings, Stephanie J Mihalik, Peter Wipf, Bennett Van Houten, Jerry Vockley
Mitochondrial complex I (CI) deficiency is the most frequent cause of oxidative phosphorylation (OXPHOS) disorders in humans. In order to benchmark the effects of CI deficiency on mitochondrial bioenergetics and dynamics, respiratory chain (RC) and endoplasmic reticulum (ER)-mitochondria communication, and superoxide production, fibroblasts from patients with mutations in the ND6, NDUFV1 or ACAD9 genes were analyzed. Fatty acid metabolism, basal and maximal respiration, mitochondrial membrane potential, and ATP levels were decreased...
January 18, 2018: Scientific Reports
Joanna Rusecka, Magdalena Kaliszewska, Ewa Bartnik, Katarzyna Tońska
Mitochondrial diseases are defined by a respiratory chain dysfunction and in most of the cases manifest as multisystem disorders with predominant expression in muscles and nerves and may be caused by mutations in mitochondrial (mtDNA) or nuclear (nDNA) genomes. Most of the proteins involved in respiratory chain function are nuclear encoded, although 13 subunits of respiratory chain complexes (together with 2 rRNAs and 22 tRNAs necessary for their translation) encoded by mtDNA are essential for cell function...
February 2018: Journal of Applied Genetics
Michele Salemi, Laura Cimino, Marika Marino, Rossella Cannarella, Rosita A Condorelli, Corrado Romano, Sandro La Vignera, Aldo E Calogero
Objectives: Klinefelter syndrome (KS) is one of the most common sex-chromosome disorders as it affects up to 1 in every 600-1000 newborn males. Men with KS carry one extra X chromosome and they usually present a 47,XXY karyotype, but less frequent variants have also been reported in literature. KS typical symptoms include tall stature, gynecomastia, broad hips, hypogonadism and absent spermatogenesis. The syndrome is also related to a wide range of cognitive deficits, among which language-based learning disabilities and verbal cognition impairment are frequently diagnosed...
2018: International Journal of Medical Sciences
Farzad Salehpour, Javad Mahmoudi, Farzin Kamari, Saeed Sadigh-Eteghad, Seyed Hossein Rasta, Michael R Hamblin
Brain photobiomodulation (PBM) therapy using red to near-infrared (NIR) light is an innovative treatment for a wide range of neurological and psychological conditions. Red/NIR light is able to stimulate complex IV of the mitochondrial respiratory chain (cytochrome c oxidase) and increase ATP synthesis. Moreover, light absorption by ion channels results in release of Ca2+ and leads to activation of transcription factors and gene expression. Brain PBM therapy enhances the metabolic capacity of neurons and stimulates anti-inflammatory, anti-apoptotic, and antioxidant responses, as well as neurogenesis and synaptogenesis...
January 11, 2018: Molecular Neurobiology
Idan Cohen, Orna Staretz-Chacham, Ohad Wormser, Yonatan Perez, Ann Saada, Rotem Kadir, Ohad S Birk
SLC25A1 mutations are associated with combined D,L-2-hydroxyglutaric aciduria (DL- 2HGA; OMIM #615182), characterized by muscular hypotonia, severe neurodevelopmental dysfunction and intractable seizures. SLC25A1 encodes the mitochondrial citrate carrier (CIC), which mediates efflux of the mitochondrial tricarboxylic acid (TCA) cycle intermediates citrate and isocitrate in exchange for cytosolic malate. Only a single family with an SLC25A1 mutation has been described in which mitochondrial respiratory chain dysfunction was documented, specifically in complex IV...
February 2018: American Journal of Medical Genetics. Part A
Wensheng Yan, Yunxiao Kang, Xiaoming Ji, Shuangcheng Li, Yingkun Li, Guoliang Zhang, Huixian Cui, Geming Shi
Testosterone deficiency, as a potential risk factor for aging and aging-related neurodegenerative disorders, might induce mitochondrial dysfunction and facilitate the declines of the nigrostriatal dopaminergic system by exacerbating the mitochondrial defects and increasing the oxidative damage. Thus, how testosterone levels influence the mitochondrial function in the substantia nigra was investigated in the study. The present studies showed that testosterone deficiency impaired the mitochondrial function in the substantia nigra and induced the oxidative damage to the substantia nigra as well as the deficits in the nigrostriatal dopaminergic system...
2017: Oxidative Medicine and Cellular Longevity
Andrea Legati, Aurelio Reyes, Camilla Ceccatelli Berti, Oliver Stehling, Silvia Marchet, Costanza Lamperti, Alberto Ferrari, Alan J Robinson, Ulrich Mühlenhoff, Roland Lill, Massimo Zeviani, Paola Goffrini, Daniele Ghezzi
BACKGROUND: Hereditary myopathy with lactic acidosis and myopathy with deficiency of succinate dehydrogenase and aconitase are variants of a recessive disorder characterised by childhood-onset early fatigue, dyspnoea and palpitations on trivial exercise. The disease is non-progressive, but life-threatening episodes of widespread weakness, metabolic acidosis and rhabdomyolysis may occur. So far, this disease has been molecularly defined only in Swedish patients, all homozygous for a deep intronic splicing affecting mutation in ISCU encoding a scaffold protein for the assembly of iron-sulfur (Fe-S) clusters...
October 27, 2017: Journal of Medical Genetics
Mesfer Al Shahrani, Simon Heales, Iain Hargreaves, Michael Orford
Oxidative stress arises when cellular antioxidant defences become overwhelmed by a surplus generation of reactive oxygen species (ROS). Once this occurs, many cellular biomolecules such as DNA, lipids, and proteins become susceptible to free radical-induced oxidative damage, and this may consequently lead to cellular and ultimately tissue and organ dysfunction. Mitochondria, as well as being a source of ROS, are vulnerable to oxidative stress-induced damage with a number of key biomolecules being the target of oxidative damage by free radicals, including membrane phospholipids, respiratory chain complexes, proteins, and mitochondrial DNA (mt DNA)...
October 27, 2017: Journal of Clinical Medicine
N Vinu, Ratna D Puri, Kanav Anand, Ishwar C Verma
BACKGROUND: Mitochondrial disorders have a wide variability in the phenotype. A 10-mo-old girl presented with a severe phenotype of multisystem involvement due to an uncommon mitochondrial disease. Mutations in the RMND1 gene of nuclear DNA were identified on next generation sequencing. This mutation results in combined oxidative phosphorylation deficiency -11 (OMIM #614922) of the respiratory chain complex. So far in South Asia, patients of this disorder have been reported only from Pakistan and Bangladesh...
October 26, 2017: Indian Journal of Pediatrics
Andreea Manole, Zane Jaunmuktane, Iain Hargreaves, Marthe H R Ludtmann, Vincenzo Salpietro, Oscar D Bello, Simon Pope, Amelie Pandraud, Alejandro Horga, Renata S Scalco, Abi Li, Balasubramaniem Ashokkumar, Charles M Lourenço, Simon Heales, Rita Horvath, Patrick F Chinnery, Camilo Toro, Andrew B Singleton, Thomas S Jacques, Andrey Y Abramov, Francesco Muntoni, Michael G Hanna, Mary M Reilly, Tamas Revesz, Dimitri M Kullmann, James E C Jepson, Henry Houlden
Brown-Vialetto-Van Laere syndrome represents a phenotypic spectrum of motor, sensory, and cranial nerve neuropathy, often with ataxia, optic atrophy and respiratory problems leading to ventilator-dependence. Loss-of-function mutations in two riboflavin transporter genes, SLC52A2 and SLC52A3, have recently been linked to Brown-Vialetto-Van Laere syndrome. However, the genetic frequency, neuropathology and downstream consequences of riboflavin transporter mutations are unclear. By screening a large cohort of 132 patients with early-onset severe sensory, motor and cranial nerve neuropathy we confirmed the strong genetic link between riboflavin transporter mutations and Brown-Vialetto-Van Laere syndrome, identifying 22 pathogenic mutations in SLC52A2 and SLC52A3, 14 of which were novel...
November 1, 2017: Brain: a Journal of Neurology
Geoffray Monteuuis, Fumi Suomi, Juha M Kerätär, Ali J Masud, Alexander J Kastaniotis
Mitochondrial fatty acid synthesis (mtFAS) is a highly conserved pathway essential for mitochondrial biogenesis. The mtFAS process is required for mitochondrial respiratory chain assembly and function, synthesis of the lipoic acid cofactor indispensable for the function of several mitochondrial enzyme complexes and essential for embryonic development in mice. Mutations in human mtFAS have been reported to lead to neurodegenerative disease. The source of malonyl-CoA for mtFAS in mammals has remained unclear...
November 6, 2017: Biochemical Journal
Young Joon Kwon, Sujay Guha, Florin Tuluc, Marni J Falk
Mitochondrial respiratory chain disease is caused by a wide range of individually rare genetic disorders that impair cellular energy metabolism. While fluorescence microscopy analysis of nematodes fed MitoTracker Green (MTG) and tetramethylrhodamine ethyl ester (TMRE) can reliably quantify relative mitochondrial density and membrane potential, respectively, in C. elegans, it is a tedious process with limitations in the number and age of animals that can be studied. A novel, large particle, flow cytometry-based method reported here accelerates and automates the relative quantitation of mitochondrial physiology in nematode populations...
October 3, 2017: Mitochondrion
Ewen W Sommerville, Charlotte L Alston, Angela Pyle, Langping He, Gavin Falkous, Karen Naismith, Patrick F Chinnery, Robert McFarland, Robert W Taylor
OBJECTIVE: To determine the genetic etiology of a young woman presenting an early-onset, progressive neurodegenerative disorder with evidence of decreased mitochondrial complex I and IV activities in skeletal muscle suggestive of a mitochondrial disorder. METHODS: A case report including diagnostic workup, whole-exome sequencing of the affected patient, filtering, and prioritization of candidate variants assuming a suspected autosomal recessive mitochondrial disorder and segregation studies...
October 2017: Neurology. Genetics
René G Feichtinger, Monika Oláhová, Yoshihito Kishita, Caterina Garone, Laura S Kremer, Mikako Yagi, Takeshi Uchiumi, Alexis A Jourdain, Kyle Thompson, Aaron R D'Souza, Robert Kopajtich, Charlotte L Alston, Johannes Koch, Wolfgang Sperl, Elisa Mastantuono, Tim M Strom, Saskia B Wortmann, Thomas Meitinger, Germaine Pierre, Patrick F Chinnery, Zofia M Chrzanowska-Lightowlers, Robert N Lightowlers, Salvatore DiMauro, Sarah E Calvo, Vamsi K Mootha, Maurizio Moggio, Monica Sciacco, Giacomo P Comi, Dario Ronchi, Kei Murayama, Akira Ohtake, Pedro Rebelo-Guiomar, Masakazu Kohda, Dongchon Kang, Johannes A Mayr, Robert W Taylor, Yasushi Okazaki, Michal Minczuk, Holger Prokisch
Complement component 1 Q subcomponent-binding protein (C1QBP; also known as p32) is a multi-compartmental protein whose precise function remains unknown. It is an evolutionary conserved multifunctional protein localized primarily in the mitochondrial matrix and has roles in inflammation and infection processes, mitochondrial ribosome biogenesis, and regulation of apoptosis and nuclear transcription. It has an N-terminal mitochondrial targeting peptide that is proteolytically processed after import into the mitochondrial matrix, where it forms a homotrimeric complex organized in a doughnut-shaped structure...
October 5, 2017: American Journal of Human Genetics
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