Blar i Bergen Open Research Archive på forfatter "Bindoff, Laurence"
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ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?
Hikmat, Omar; Tzoulis, Charalampos; Knappskog, Per; Johansson, Stefan; Boman, Helge; Sztromwasser, Pawel Szymon; Lien, Espen; Brodtkorb, Eylert; Ghezzi, Daniele; Bindoff, Laurence (Peer reviewed; Journal article, 2016-07)Background and purpose: Defects of coenzyme Q10 (CoQ10) metabolism cause a variety of disorders ranging from isolated myopathy to multisystem involvement. ADCK3 is one of several genes associated with CoQ10 deficiency that ... -
Case Report: No effect of electrical transcranial direct current stimulation adjunct treatment for epilepsia partialis continua in POLG disease
Marquardt, Lynn Anne; Eichele, Tom; Bindoff, Laurence; Olberg, Henning Kristian; Veiby, Gyri; Eichele, Heike; Kusztrits, Isabella; Hirnstein, Marco (Journal article; Peer reviewed, 2019)We report a 15-year-old female with POLG-related mitochondrial disease who developed severe multifocal epilepsia partialis continua, unresponsive to standard anti seizure drug treatment and general anesthesia. Based on an ... -
Defective i⁶A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and Its Substrate tRNA
Yarham, John W.; Lamichhane, Tek N.; Pyle, Angela; Mattijssen, Sandy; Baruffini, Enrico; Bruni, Francesco; Donnini, Claudia; Vassilev, Alex; He, Langping; Blakely, Emma L.; Griffin, Helen; Santibanez-Koref, Mauro; Bindoff, Laurence; Ferrero, Iliana; Chinnery, Patrick F.; McFarland, Robert; Maraia, Richard J.; Taylor, Robert W. (Peer reviewed; Journal article, 2014-06-05)Identifying the genetic basis for mitochondrial diseases is technically challenging given the size of the mitochondrial proteome and the heterogeneity of disease presentations. Using next-generation exome sequencing, we ... -
Defective mitochondrial DNA homeostasis in the substantia nigra in Parkinson disease
Dölle, Christian; Flønes, Irene Hana; Sanchez Nido, Gonzalo; Miletic, Hrvoje; Osuagwu, Nelson; Kristoffersen, Stine; Lilleng, Peer Kåre; Larsen, Jan Petter; Tysnes, Ole-Bjørn; Haugarvoll, Kristoffer; Bindoff, Laurence; Tzoulis, Charalampos (Peer reviewed; Journal article, 2016-11-22)Increased somatic mitochondrial DNA (mtDNA) mutagenesis causes premature aging in mice, and mtDNA damage accumulates in the human brain with aging and neurodegenerative disorders such as Parkinson disease (PD). Here, we ... -
Diagnostic value of serum biomarkers FGF21 and GDF15 compared to muscle sample in mitochondrial disease
Lehtonen, Jenni M.; Auranen, Mari; Darin, Niklas; Sofou, Kalliopi; Bindoff, Laurence; Hikmat, Omar; Uusimaa, Johanna; Vieira, Paivi; Tulinius, Már; Lönnqvist, Tuula; de Coo, Irenaeus F.; Suomalainen, Anu; Isohanni, Pirjo (Journal article; Peer reviewed, 2021)The aim of this study was to compare the value of serum biomarkers, fibroblast growth factor 21 (FGF21) and growth differentiation factor 15 (GDF15), with histological analysis of muscle in the diagnosis of mitochondrial ... -
Disease-specific phenotypes in iPSC-derived neural stem cells with POLG mutations
Liang, Xiao; Kristiansen, Cecilie Katrin; Mostafavi, Sepideh; Vatne, Guro H.; Zantingh, Gina; Kianian, Atefeh; Tzoulis, Charalampos; Høyland, Lena Elise; Ziegler, Mathias; Perez, Roberto Megias; Furriol, Jessica; Zhang, Zhuoyuan; Balafkan, Novin; Hong, Yu; Siller, Richard; Sullivan, Gareth; Bindoff, Laurence (Journal article; Peer reviewed, 2020)Mutations in POLG disrupt mtDNA replication and cause devastating diseases often with neurological phenotypes. Defining disease mechanisms has been hampered by limited access to human tissues, particularly neurons. Using ... -
Fever-related ataxia: a case report of CAPOS syndrome
Stenshorne, Ida; Rasmussen, Magnhild; Salvanos, Panagiotis; Tallaksen, Chantal; Bindoff, Laurence; Koht, Jeanette (Journal article; Peer reviewed, 2019)Background: CAPOS (Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy and Sensorineural hearing loss) syndrome is caused by the heterozygous mutation, c.2452G > A, in the ATP1A3 gene. Other mutations in this gene ... -
GBA2 mutations cause a Marinesco-Sjogren-like syndrome: Genetic and biochemical studies
Haugarvoll, Kristoffer; Johansson, Stefan; Rodriguez, Carlos E.; Boman, Helge; Haukanes, Bjørn Ivar; Bruland, Ove; Roque, Francisco; Jonassen, Inge; Blomqvist, Maria; Telstad, Wenche; Månsson, Jan-Eric; Knappskog, Per; Bindoff, Laurence (Peer reviewed; Journal article, 2017-01-04)Background: With the advent new sequencing technologies, we now have the tools to understand the phenotypic diversity and the common occurrence of phenocopies. We used these techniques to investigate two Norwegian families ... -
Genetic and hypoxic alterations of the microRNA-210-ISCU1/2 axis promote iron-sulfur deficiency and pulmonary hypertension
White, Kevin; Lu, Yu; Annis, Sofia; Hale, Andrew E.; Chau, B. Nelson; Dahlman, James E.; Hemann, Craig; Opotowsky, Alexander R.; Vargas, Sara O.; Rosas, Ivan; Perrella, Mark A.; Osorio, Juan C.; Haley, Kathleen J.; Graham, Brian B.; Kumar, Rahul; Saggar, Rajan; Saggar, Rajeev; Wallace, W. Dean; Ross, David J.; Khan, Omar F.; Bader, Andrew; Gochuico, Bernadette R.; Matar, Majed; Polach, Kevin; Johannessen, Nicolai; Prosser, Haydn M.; Anderson, Daniel G.; Langer, Robert; Zweier, Jay L.; Bindoff, Laurence; Systrom, David; Waxman, Aaron B.; Jin, Richard C.; Chan, Stephen Y. (Peer reviewed; Journal article, 2015)Iron–sulfur (Fe‐S) clusters are essential for mitochondrial metabolism, but their regulation in pulmonary hypertension (PH) remains enigmatic. We demonstrate that alterations of the miR‐210‐ISCU1/2 axis cause Fe‐S deficiencies ... -
Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9
Murphy, Lindsay B.; Schreiber-Katz, Olivia; Rafferty, Karen; Robertson, Agata; Topf, Ana; Willis, Tracey A.; Heidemann, Marcel; Thiele, Simone; Bindoff, Laurence; Laurent, Jean-Pierre; Lochmüller, Hanns; Mathews, Katherine; Mitchell, Claudia; Stevenson, John Herbert; Vissing, John; Woods, Lacey; Walter, Maggie C.; Straub, Volker (Journal article; Peer reviewed, 2020-04)Objective The Global FKRP Registry is a database for individuals with conditions caused by mutations in the Fukutin‐Related Protein (FKRP) gene: limb girdle muscular dystrophy R9 (LGMDR9, formerly LGMD2I) and congenital ... -
A hospital based epidemiological study of genetically determined muscle disease in south western Norway
Husebye, Sylvia Adele; Rebne, Camilla Bratt; Stokland, Ann-Elin Meling; Sanaker, Petter Schandl; Bindoff, Laurence (Journal article; Peer reviewed, 2020)We determined the prevalence of genetically determined neuromuscular diseases in adult Norwegian patients from Hordaland County. We identified patients using International Classification of Disease codes registered in our ... -
The impact of gender, puberty, and pregnancy in patients with POLG disease
Hikmat, Omar; Naess, Karin; Engvall, Martin; Klingenberg, Claus; Rasmussen, Magnhild; Tallaksen, Chantal; Samsonsen, Christian; Brodtkorb, Eylert; Ostergaard, Elsebet; de Coo, Rene; Pias-Peleteiro, Leticia; Isohanni, Pirjo; Uusimaa, Johanna; Darin, Niklas; Rahman, Shamima; Bindoff, Laurence (Journal article; Peer reviewed, 2020)Objective To study the impact of gender, puberty, and pregnancy on the expression of POLG disease, one of the most common mitochondrial diseases known. Methods Clinical, laboratory, and genetic data were collected ... -
Mental health and health related quality of life in mitochondrial POLG disease
Hikmat, Omar; Vederhus, Bente Johanne; Benestad, Merete Roineland; Engeset, Ida Malen E.; Klingenberg, Claus; Rasmussen, Magnhild; Tallaksen, Chantal; Brodtkorb, Eylert; Elgen, Irene Bircow; Bindoff, Laurence (Journal article; Peer reviewed, 2020)We aimed to assess the impact of POLG disease on mental health and quality of life in 15 patients using the Symptom Checklist-90-R (SCL-90-R) and Short-Form 36 Health Survey (RAND-36). We found increased scores in all nine ... -
A method for dierentiating human induced pluripotent stem cells toward functional cardiomyocytes in 96‐well microplates
Balafkan, Novin; Mostafavi, Sepideh; Schubert, Manja; Siller, Richard; Liang, Xiao; Sullivan, Gareth; Bindoff, Laurence (Journal article; Peer reviewed, 2020)The capacity of pluripotent stem cells both for self-renewal and to differentiate into any cell type have made them a powerful tool for studying human disease. Protocols for efficient differentiation towards cardiomyocytes ... -
Mitochondrial DNA depletion in sporadic inclusion body myositis
Bhatt, Padmanabh S.; Tzoulis, Charalampos; Balafkan, Novin; Miletic, Hrvoje; Tran, Gia Tuong Thi; Sanaker, Petter Schandl; Bindoff, Laurence (Peer reviewed; Journal article, 2019)Sporadic inclusion body myositis (sIBM) is a late onset disorder of unkown aetiology. Mitochondrial changes such as cytochrome oxidase deficient fibres are a well recognised feature and mitochondrial DNA (mtDNA) deletions ... -
Molecular dysfunction associated with the human mitochondrial 3302A>G mutation in the MTTL1 (mt-tRNA Leu(UUR))) gene
Maniura-Weber, Katharina; Helm, Mark; Engemann, Katrin; Eckertz, Sabrina; Möllers, Myriam; Schauen, Matthias; Haryapetyan, Armine; Kleist-Retzow, Jürgen-Christoph von; Lightowlers, Robert N.; Bindoff, Laurence; Wiesner, Rudolf J. (Peer reviewed; Journal article, 2006-11-27)The gene encoding mt-tRNALeu(UUR), MT-TL1, is a hotspot for pathogenic mtDNA mutations. Amongst the first to be described was the 3302A>G transition which resulted in a substantial accumulation in patient muscle of RNA19, ... -
Molecular pathogenesis of polymerase gamma-related neurodegeneration
Tzoulis, Charalampos; Tran, Gia Tuong Thi; Coxhead, Jonathan; Bertelsen, Bjørn; Lilleng, Peer Kåre; Balafkan, Novin; Payne, Brendan; Miletic, Hrvoje; Chinnery, Patrick F.; Bindoff, Laurence (Peer reviewed; Journal article, 2014-07)Objective: Polymerase gamma (POLG) mutations are a common cause of mitochondrial disease and have also been linked to neurodegeneration and aging. We studied the molecular mechanisms underlying POLG-related neurodegeneration ... -
MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing
Haugarvoll, Kristoffer; Johansson, Stefan; Tzoulis, Charalampos; Haukanes, Bjørn Ivar; Bredrup, Cecilie; Neckelmann, Gesche; Boman, Helge; Knappskog, Per; Bindoff, Laurence (Peer reviewed; Journal article, 2013-01-03)Background: Correct diagnosis is pivotal to understand and treat neurological disease. Herein, we report the diagnostic work-up utilizing exome sequencing and the characterization of clinical features and brain MRI in two ... -
A multicenter study on Leigh syndrome: disease course and predictors of survival
Sofou, Kalliopi; De Coo, Irenaeus F. M.; Isohanni, Pirjo; Ostergaard, Elsebet; Naess, Karin; De Meirleir, Linda; Tzoulis, Charalampos; Uusimaa, Johanna; De Angst, Isabell B.; Lönnqvist, Tuula; Pihko, Helena; Mankinen, Katariina; Bindoff, Laurence; Tulinius, Már; Darin, Niklas (Peer reviewed; Journal article, 2014-04-15)Background: Leigh syndrome is a progressive neurodegenerative disorder, associated with primary or secondary dysfunction of the mitochondrial oxidative phosphorylation. Despite the fact that Leigh syndrome is the most ... -
Neurofilament light chain predicts disease activity in relapsing-remitting MS
Varhaug, Kristin Nielsen; Barro, Christian; Bjørnevik, Kjetil Lauvland; Myhr, Kjell-Morten; Torkildsen, Øivind; Wergeland, Stig; Bindoff, Laurence; Kuhle, Jens; Vedeler, Christian A. (Peer reviewed; Journal article, 2018)Objective: To investigate whether serum neurofilament light chain (NF-L) and chitinase 3-like 1 (CHI3L1) predict disease activity in relapsing-remitting MS (RRMS). Methods: A cohort of 85 patients with RRMS were followed ...