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Rui Bi, Wen Zhang, Deng-Feng Zhang, Min Xu, Yu Fan, Qiu-Xiang Hu, Hong-Yan Jiang, Liwen Tan, Tao Li, Yiru Fang, Chen Zhang, Yong-Gang Yao
Alzheimer's disease (AD) is the most common cause of dementia. Mitochondrial dysfunction has been widely reported in AD due to its important role in cellular metabolism and energy production. Complex IV (cytochrome c oxidase, COX) of mitochondrial electron transport chain, is particularly vulnerable in AD. Defects of COX in AD have been well documented, but there is little evidence to support the genetic association of the COX-related genes with AD. In this study, we investigated the genetic association between 17 nuclear-encoded COX-related genes and AD in 1572 Han Chinese...
October 2018: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
Yuanyuan Li, Shumeng Wen, Dongxiao Li, Jie Xie, Xiujuan Wei, Xiyuan Li, Yi Liu, Hezhi Fang, Yanling Yang, Jianxin Lyu
SURF1 is an assembly factor of mitochondrial complex IV, and its mutations are the primary cause of Leigh syndrome in infants. To date, over 100 SURF1 mutations have been reported worldwide, but the spectrum of the SURF1 mutations in China remains unclear. Here, using next-generation sequencing targeting mitochondrial protein-coding sequences, we sequenced 178 patients suspected to have mitochondrial diseases. Fifteen SURF1 mutations were identified in 12 Leigh syndrome patients, of which three, c.465_466delAA, c...
October 20, 2018: Gene
Daniel Danis, Katarina Brennerova, Martina Skopkova, Timea Kurdiova, Jozef Ukropec, Juraj Stanik, Miriam Kolnikova, Daniela Gasperikova
OBJECTIVES: Leigh syndrome is a progressive early onset neurodegenerative disease typically presenting with psychomotor regression, signs of brainstem and/or basal ganglia disease, lactic acidosis, and characteristic magnetic resonance imaging findings. At molecular level, deficiency of respiratory complexes and/or pyruvate dehydrogenase complex is usually observed. Nuclear gene SURF1 encodes an assembly factor for cytochrome c-oxidase complex of the respiratory chain and autosomal recessive mutations in SURF1 are one of the most frequent causes of cytochrome c-oxidase-related Leigh syndrome cases...
April 1, 2018: Endocrine Regulations
Sathyaseelan S Deepa, Gavin Pharaoh, Michael Kinter, Vivian Diaz, Wilson C Fok, Kaitlyn Riddle, Daniel Pulliam, Shauna Hill, Kathleen E Fischer, Vanessa Soto, Constantin Georgescu, Jonathan D Wren, Carlo Viscomi, Arlan Richardson, Holly Van Remmen
Loss of SURF1, a Complex IV assembly protein, was reported to increase lifespan in mice despite dramatically lower cytochrome oxidase (COX) activity. Consistent with this, our previous studies found advantageous changes in metabolism (reduced adiposity, increased insulin sensitivity, and mitochondrial biogenesis) in Surf1-/- mice. The lack of deleterious phenotypes in Surf1-/- mice is contrary to the hypothesis that mitochondrial dysfunction contributes to aging. We found only a modest (nonsignificant) extension of lifespan (7% median, 16% maximum) and no change in healthspan indices in Surf1-/- vs...
April 25, 2018: Aging Cell
C Quadalti, D Brunetti, I Lagutina, R Duchi, A Perota, G Lazzari, R Cerutti, I Di Meo, M Johnson, E Bottani, P Crociara, C Corona, S Grifoni, V Tiranti, E Fernandez-Vizarra, A J Robinson, C Viscomi, C Casalone, M Zeviani, C Galli
Leigh syndrome (LS) associated with cytochrome c oxidase (COX) deficiency is an early onset, fatal mitochondrial encephalopathy, leading to multiple neurological failure and eventually death, usually in the first decade of life. Mutations in SURF1, a nuclear gene encoding a mitochondrial protein involved in COX assembly, are among the most common causes of LS. LSSURF1 patients display severe, isolated COX deficiency in all tissues, including cultured fibroblasts and skeletal muscle. Recombinant, constitutive SURF1-/- mice show diffuse COX deficiency, but fail to recapitulate the severity of the human clinical phenotype...
June 2018: Biochimica et biophysica acta. Molecular basis of disease
Marwa Maalej, Thouraya Kammoun, Olfa Alila-Fersi, Marwa Kharrat, Marwa Ammar, Rahma Felhi, Emna Mkaouar-Rebai, Leila Keskes, Mongia Hachicha, Faiza Fakhfakh
Leigh syndrome (LS) is a rare progressive neurodegenerative disorder occurring in infancy. The most common clinical signs reported in LS are growth retardation, optic atrophy, ataxia, psychomotor retardation, dystonia, hypotonia, seizures and respiratory disorders. The paper reported a manifestation of 3 Tunisian patients presented with LS syndrome. The aim of this study is the MT[HYPHEN]ATP6 and SURF1 gene screening in Tunisian patients affected with classical Leigh syndrome and the computational investigation of the effect of detected mutations on its structure and functions by clinical and bioinformatics analyses...
March 18, 2018: Biochemical and Biophysical Research Communications
Shauna Hill, Sathyaseelan S Deepa, Kavithalakshmi Sataranatarajan, Pavithra Premkumar, Daniel Pulliam, Yuhong Liu, Vanessa Y Soto, Kathleen E Fischer, Holly Van Remmen
Cytochrome c oxidase (COX) is an essential transmembrane protein complex (Complex IV) in the mitochondrial respiratory electron chain. Mutations in genes responsible for the assembly of COX are associated with Leigh syndrome, cardiomyopathy, spinal muscular atrophy and other fatal metabolic disorders in humans. Previous studies have shown that mice lacking the COX assembly protein Surf1 (Surf1-/- mice) paradoxically show a number of beneficial metabolic phenotypes including increased insulin sensitivity, upregulation of mitochondrial biogenesis, induction of stress response pathways and increased lifespan...
November 5, 2017: Molecular and Cellular Endocrinology
Myriam Bourens, Antoni Barrientos
Defects in mitochondrial respiratory chain complex IV (CIV) frequently cause encephalocardiomyopathies. Human CIV assembly involves 14 subunits of dual genetic origin and multiple nucleus-encoded ancillary factors. Biogenesis of the mitochondrion-encoded copper/heme-containing COX1 subunit initiates the CIV assembly process. Here, we show that the intermembrane space twin CX9 C protein CMC1 forms an early CIV assembly intermediate with COX1 and two assembly factors, the cardiomyopathy proteins COA3 and COX14...
March 2017: EMBO Reports
Hiroko Shimbo, Mariko Takagi, Mitsuko Okuda, Yu Tsuyusaki, Kyoko Takano, Mizue Iai, Sumimasa Yamashita, Kei Murayama, Akira Ohtake, Yu-Ichi Goto, Noriko Aida, Hitoshi Osaka
Large numbers of genes are responsible for Leigh syndrome (LS), making genetic confirmation of LS difficult. We screened our patients with LS using a limited set of 21 primers encompassing the frequently reported gene for the respiratory chain complexes I (ND1-ND6, and ND4L), IV(SURF1), and V(ATP6) and the pyruvate dehydrogenase E1α-subunit. Of 18 LS patients, we identified mutations in 11 patients, including 7 in mDNA (two with ATP6), 4 in nuclear (three with SURF1). Overall, we identified mutations in 61% of LS patients (11/18 individuals) in this cohort...
2014: Molecular Genetics and Metabolism Reports
Kothari Sonam, Parayil Sankaran Bindu, M M Srinivas Bharath, Periyasamy Govindaraj, Narayanappa Gayathri, Hanumanthapura R Arvinda, Shwetha Chiplunkar, Madhu Nagappa, Sanjib Sinha, Nahid Akhtar Khan, Vandana Nunia, Arumugam Paramasivam, Kumarasamy Thangaraj, Arun B Taly
Mitochondrial oxidative phosphorylation (OXPHOS) disorders account for a variety of neuromuscular disorders in children. In this study mitochondrial respiratory chain enzymes were assayed in muscle tissue in a large cohort of children with varied neuromuscular presentations from June 2011 to December 2013. The biochemical enzyme deficiencies were correlated with the phenotypes, magnetic resonance imaging, histopathology and genetic findings to reach a final diagnosis. There were 85 children (mean age: 6.9±4...
January 2017: Mitochondrion
Carolina Ribeiro, Maria do Carmo Macário, Ana Teresa Viegas, João Pratas, Maria João Santos, Marta Simões, Cândida Mendes, Mafalda Bacalhau, Paula Garcia, Luísa Diogo, Manuela Grazina
Leigh syndrome (LS) is a rare, progressive neurodegenerative mitochondrial disorder of infancy. It is a genetically heterogeneous disease. The mutations in SURF1 gene are the most frequently known cause. Here two cases of LS likely caused by SURF1 gene variants are reported: a 39-year-old male patient with a novel homozygous deletion (c.-11_13del), and a case of a 6-year-old boy with the same deletion and a nonsense mutation (c.868dupT), both in heterozygosity. Blue native PAGE showed absence of assembled complex IV...
November 2016: Mitochondrion
Manoj P Menezes, Shamima Rahman, Kaustuv Bhattacharya, Damian Clark, John Christodoulou, Carolyn Ellaway, Michelle Farrar, Matthew Pitt, Hugo Sampaio, Tyson L Ware, Yehani Wedatilake, David R Thorburn, Monique M Ryan, Robert Ouvrier
INTRODUCTION: Peripheral nerve involvement is common in mitochondrial disease but often unrecognised due to the prominent central nervous system features. Identification of the underlying neuropathy may assist syndrome classification, targeted genetic testing and rehabilitative interventions. METHODS: Clinical data and the results of nerve conduction studies were obtained retrospectively from the records of four tertiary children's hospital metabolic disease, neuromuscular or neurophysiology services...
September 2016: Mitochondrion
Nikola Kovářová, Petr Pecina, Hana Nůsková, Marek Vrbacký, Massimo Zeviani, Tomáš Mráček, Carlo Viscomi, Josef Houštěk
This paper describes data related to a research article entitled "Tissue- and species-specific differences in cytochrome c oxidase assembly induced by SURF1 defects" [1]. This paper includes data of the quantitative analysis of individual forms of respiratory chain complexes I, III and IV present in SURF1 knockout (SURF1 (-/-) ) and control (SURF1 (+/+) ) mouse fibroblasts and tissues and in fibroblasts of human control and patients with SURF1 gene mutation. Also it includes data demonstrating response of complex IV, cytochrome c oxidase (COX), to reversible inhibition of mitochondrial translation in SURF1 (-/-) mouse and SURF1 patient fibroblast cell lines...
June 2016: Data in Brief
Gavin Pharaoh, Daniel Pulliam, Shauna Hill, Kavithalakshmi Sataranatarajan, Holly Van Remmen
Mice deficient in the electron transport chain (ETC) complex IV assembly protein SURF1 have reduced assembly and activity of cytochrome c oxidase that is associated with an upregulation of components of the mitochondrial unfolded protein response (UPR(MT)) and increased mitochondrial number. We hypothesized that the upregulation of proteins associated with the UPR(MT) in response to reduced cytochrome c oxidase activity in Surf1(-/-) mice might contribute to increased stress resistance. To test this hypothesis we asked whether primary cultures of fibroblasts from Surf1(-/-) mice exhibit enhanced resistance to stressors compared to wild-type fibroblasts...
August 2016: Redox Biology
Michelangelo Mancuso, Daniele Orsucci, Corrado Angelini, Enrico Bertini, Valerio Carelli, Giacomo Pietro Comi, Antonio Federico, Carlo Minetti, Maurizio Moggio, Tiziana Mongini, Paola Tonin, Antonio Toscano, Claudio Bruno, Elena Caldarazzo Ienco, Massimiliano Filosto, Costanza Lamperti, Daria Diodato, Isabella Moroni, Olimpia Musumeci, Elena Pegoraro, Marco Spinazzi, Naghia Ahmed, Monica Sciacco, Liliana Vercelli, Anna Ardissone, Massimo Zeviani, Gabriele Siciliano
Involvement of the peripheral nervous system in mitochondrial disorders has been previously reported. However, the prevalence of peripheral neuropathy in mitochondrial disorders is still unclear. Based on the large database of the "Nation-wide Italian Collaborative Network of Mitochondrial Diseases", we reviewed the clinical data of 1200 patients, with special regard to peripheral neuropathy (mean age at onset 24.3 ± 20.1 years; age at last evaluation 39.8 ± 22.3 years; females 52.7%; childhood onset [before age 16 years] 43...
April 2016: Neuromuscular Disorders: NMD
Nikola Kovářová, Petr Pecina, Hana Nůsková, Marek Vrbacký, Massimo Zeviani, Tomáš Mráček, Carlo Viscomi, Josef Houštěk
Mitochondrial protein SURF1 is a specific assembly factor of cytochrome c oxidase (COX), but its function is poorly understood. SURF1 gene mutations cause a severe COX deficiency manifesting as the Leigh syndrome in humans, whereas in mice SURF1(-/-) knockout leads only to a mild COX defect. We used SURF1(-/-) mouse model for detailed analysis of disturbed COX assembly and COX ability to incorporate into respiratory supercomplexes (SCs) in different tissues and fibroblasts. Furthermore, we compared fibroblasts from SURF1(-/-) mouse and SURF1 patients to reveal interspecies differences in kinetics of COX biogenesis using 2D electrophoresis, immunodetection, arrest of mitochondrial proteosynthesis and pulse-chase metabolic labeling...
April 2016: Biochimica et Biophysica Acta
Parayil Sankaran Bindu, Chikanna Govindaraju, Kothari Sonam, Madhu Nagappa, Shwetha Chiplunkar, Rakesh Kumar, Narayanappa Gayathri, M M Srinivas Bharath, Hanumanthapura R Arvinda, Sanjib Sinha, Nahid Akthar Khan, Periyasamy Govindaraj, Vandana Nunia, Arumugam Paramasivam, Kumarasamy Thangaraj, Arun B Taly
BACKGROUND: There are relatively few studies, which focus on peripheral neuropathy in large cohorts of genetically characterized patients with mitochondrial disorders. This study sought to analyze the pattern of peripheral neuropathy in a cohort of patients with mitochondrial disorders. METHODS: The study subjects were derived from a cohort of 52 patients with a genetic diagnosis of mitochondrial disorders seen over a period of 8 years (2006-2013). All patients underwent nerve conduction studies and those patients with abnormalities suggestive of peripheral neuropathy were included in the study...
March 2016: Mitochondrion
Zhimei Liu, Fang Fang, Changhong Ding, Weihua Zhang, Jiuwei Li, Xinying Yang, Xiaohui Wang, Yun Wu, Hongmei Wang, Liying Liu, Tongli Han, Xu Wang, Chunhong Chen, Junlan Lyu, Husheng Wu
OBJECTIVE: To explore the application value of next generation sequencing (NGS) in the diagnosis of mitochondrial disorders. METHOD: According to mitochondrial disease criteria, genomic DNA was extracted using standard procedure from peripheral venous blood of patients with suspected mitochondrial disease collected from neurological department of Beijing Children's Hospital Affiliated to Capital Medical University between October 2012 and February 2014. Targeted NGS to capture and sequence the entire mtDNA and exons of the 1 000 nuclear genes related to mitochondrial structure and function...
October 2015: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
Kerstin Hallmann, Alexei P Kudin, Gábor Zsurka, Cornelia Kornblum, Jens Reimann, Burkhard Stüve, Stephan Waltz, Elke Hattingen, Holger Thiele, Peter Nürnberg, Cornelia Rüb, Wolfgang Voos, Jens Kopatz, Harald Neumann, Wolfram S Kunz
Isolated cytochrome c oxidase (complex IV) deficiency is one of the most frequent respiratory chain defects in humans and is usually caused by mutations in proteins required for assembly of the complex. Mutations in nuclear-encoded structural subunits are very rare. In a patient with Leigh-like syndrome presenting with leukodystrophy and severe epilepsy, we identified a homozygous splice site mutation in COX8A, which codes for the ubiquitously expressed isoform of subunit VIII, the smallest nuclear-encoded subunit of complex IV...
February 2016: Brain: a Journal of Neurology
Petr Pecina, Hana Houšťková, Tomáš Mráček, Alena Pecinová, Hana Nůsková, Markéta Tesařová, Hana Hansíková, Jan Janota, Jiří Zeman, Josef Houštěk
BACKGROUND: Mitochondrial diseases belong to the most severe inherited metabolic disorders affecting pediatric population. Despite detailed knowledge of mtDNA mutations and progress in identification of affected nuclear genes, diagnostics of a substantial part of mitochondrial diseases relies on clinical symptoms and biochemical data from muscle biopsies and cultured fibroblasts. METHODS: To investigate manifestation of oxidative phosphorylation defects in isolated lymphocytes, digitonin-permeabilized cells from 48 children were analyzed by high resolution respirometry, cytofluorometric detection of mitochondrial membrane potential and immunodetection of respiratory chain proteins with SDS and Blue Native electrophoreses...
December 2014: BBA Clinical
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