Subcomplexes of human ATP synthase mark mitochondrial biosynthesis disorders.

Abstract:

OBJECTIVE: METHODS:We describe biochemically and clinically relevant aspects of mitochondrial ATP synthase, the enzyme that supplies most ATP for the cells energy demand. RESULTS:Analyzing human Rho zero cells we could identify three subcomplexes of ATP synthase: F1 catalytic domain, F1 domain with bound natural IF1 inhibitor protein, and F1-c subcomplex, an assembly of F1 domain and a ring of F(O)-subunits c. Large amounts of F1 subcomplexes accumulated also in mitochondria of patients with specific mitochondrial disorders. By quantifying the F1 subcomplexes and other oxidative phosphorylation complexes in parallel, we were able to discriminate three classes of defects in mitochondrial biosynthesis, namely, mitochondrial DNA depletion, mitochondrial transfer RNA (tRNA) mutations, and mutations in the mitochondrial ATP6 gene. INTERPRETATION:The relatively simple electrophoretic assay used here is a straightforward approach to differentiate between various types of genetic alterations affecting the biosynthesis of oxidative phosphorylation complexes and will be useful to guide molecular genetic diagnostics in the field of mitochondrial neuromuscular disorders.

journal_name

Ann Neurol

journal_title

Annals of neurology

authors

Carrozzo R,Wittig I,Santorelli FM,Bertini E,Hofmann S,Brandt U,Schägger H

doi

10.1002/ana.20729

keywords:

subject

Has Abstract

pub_date

2006-02-01 00:00:00

pages

265-75

issue

2

eissn

0364-5134

issn

1531-8249

journal_volume

59

pub_type

杂志文章
  • Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene.

    abstract::We report the first molecular defect in an NADH-dehydrogenase gene presenting as isolated myopathy. The proband had lifelong exercise intolerance but no weakness. A muscle biopsy showed cytochrome c oxidase (COX)-positive ragged-red fibers (RRFs), and analysis of the mitochondrial enzymes revealed complex I deficiency...

    journal_title:Annals of neurology

    pub_type: 杂志文章

    doi:10.1002/1531-8249(199906)45:6<820::aid-ana22>3.0.c

    authors: Andreu AL,Tanji K,Bruno C,Hadjigeorgiou GM,Sue CM,Jay C,Ohnishi T,Shanske S,Bonilla E,DiMauro S

    更新日期:1999-06-01 00:00:00

  • Paraneoplastic chorea associated with CRMP-5 neuronal antibody and lung carcinoma.

    abstract::Paraneoplastic chorea is described in 16 patients: 11 with limited small-cell carcinoma, 2 with lung cancer revealed by imaging, 1 with renal cell carcinoma, and 1 with lymphoma. All had CRMP-5-IgG; 6 also had ANNA-1 (anti-Hu), including 1 without evident cancer. Chorea was the initial and most prominent symptom in 11...

    journal_title:Annals of neurology

    pub_type: 杂志文章,多中心研究

    doi:10.1002/ana.10178

    authors: Vernino S,Tuite P,Adler CH,Meschia JF,Boeve BF,Boasberg P,Parisi JE,Lennon VA

    更新日期:2002-05-01 00:00:00

  • Neuroimaging and clinical outcomes of oral anticoagulant-associated intracerebral hemorrhage.

    abstract:OBJECTIVE:Whether intracerebral hemorrhage (ICH) associated with non-vitamin K antagonist oral anticoagulants (NOAC-ICH) has a better outcome compared to ICH associated with vitamin K antagonists (VKA-ICH) is uncertain. METHODS:We performed a systematic review and individual patient data meta-analysis of cohort studie...

    journal_title:Annals of neurology

    pub_type: 杂志文章,meta分析

    doi:10.1002/ana.25342

    authors: Tsivgoulis G,Wilson D,Katsanos AH,Sargento-Freitas J,Marques-Matos C,Azevedo E,Adachi T,von der Brelie C,Aizawa Y,Abe H,Tomita H,Okumura K,Hagii J,Seiffge DJ,Lioutas VA,Traenka C,Varelas P,Basir G,Krogias C,Purrucke

    更新日期:2018-11-01 00:00:00

  • Novel amyloid precursor protein gene mutation (codon 665Asp) in a patient with late-onset Alzheimer's disease.

    abstract::Amyloid plaques in Alzheimer's disease contain beta-amyloid, encoded by portions of exons 16 and 17 of the amyloid precursor protein. The specific association of rare amyloid precursor protein mutations with some kindreds with early-onset familial Alzheimer's disease suggests that specific abnormalities in amyloid pre...

    journal_title:Annals of neurology

    pub_type: 杂志文章

    doi:10.1002/ana.410350410

    authors: Peacock ML,Murman DL,Sima AA,Warren JT Jr,Roses AD,Fink JK

    更新日期:1994-04-01 00:00:00

  • No evidence for genetic association or linkage of the cathepsin D (CTSD) exon 2 polymorphism and Alzheimer disease.

    abstract::Two recent case-control studies have suggested a strong association of a missense polymorphism in exon 2 of the cathepsin D gene (CTSD) and Alzheimer disease (AD). However, these findings were not confirmed in another independent study. We analyzed this polymorphism in two large and independent AD study populations an...

    journal_title:Annals of neurology

    pub_type: 杂志文章

    doi:10.1002/1531-8249(200101)49:1<114::aid-ana18>3.0.c

    authors: Bertram L,Guénette S,Jones J,Keeney D,Mullin K,Crystal A,Basu S,Yhu S,Deng A,Rebeck GW,Hyman BT,Go R,McInnis M,Blacker D,Tanzi R

    更新日期:2001-01-01 00:00:00

  • PTG protein depletion rescues malin-deficient Lafora disease in mouse.

    abstract::Ubiquitin ligases regulate quantities and activities of target proteins, often pleiotropically. The malin ubiquitin E3 ligase is reported to regulate autophagy, the misfolded protein response, microRNA silencing, Wnt signaling, neuronatin-mediated endoplasmic reticulum stress, and the laforin glycogen phosphatase. Mal...

    journal_title:Annals of neurology

    pub_type: 杂志文章

    doi:10.1002/ana.24104

    authors: Turnbull J,Epp JR,Goldsmith D,Zhao X,Pencea N,Wang P,Frankland PW,Ackerley CA,Minassian BA

    更新日期:2014-03-01 00:00:00

  • Parasagittal infarction in neonatal asphyxia.

    abstract::A patient is described who suffered a bilateral hemorrhagic infarction in the parasagittal cerebrum following neonatal asphyxia. This case confirms experimental results that show the parasagittal cerebrum is especially vulnerable to ischemic damage in newborns. ...

    journal_title:Annals of neurology

    pub_type: 杂志文章

    doi:10.1002/ana.410210215

    authors: Pasternak JF

    更新日期:1987-02-01 00:00:00

  • Cerebral hemodynamics and metabolism in pseudotumor cerebri.

    abstract::A comprehensive analysis of cerebral hemodynamics and metabolism was carried out in 14 patients with pseudotumor cerebri. Tracer techniques were employed to measure cerebral blood flow (CBF) and vascular reactivity to acute changes in arterial carbon dioxide tension and blood pressure, cerebral blood volume (CBV), and...

    journal_title:Annals of neurology

    pub_type: 杂志文章

    doi:10.1002/ana.410040203

    authors: Raichle ME,Grubb RL Jr,Phelps ME,Gado MH,Caronna JJ

    更新日期:1978-08-01 00:00:00

  • An English kindred with a novel recessive tauopathy and respiratory failure.

    abstract::We present the clinicopathological features of two siblings from a consanguineous marriage who presented with respiratory hypoventilation and died 10 days and 4 years later, respectively. This disorder showed extensive tau neuropathology, and both had a novel homozygous S352L tau gene mutation. This is the first descr...

    journal_title:Annals of neurology

    pub_type: 杂志文章

    doi:10.1002/ana.10747

    authors: Nicholl DJ,Greenstone MA,Clarke CE,Rizzu P,Crooks D,Crowe A,Trojanowski JQ,Lee VM,Heutink P

    更新日期:2003-11-01 00:00:00

  • Inborn errors of urea synthesis.

    abstract::Inborn errors of urea synthesis can present in the newborn period as a catastrophic illness or later in childhood or adulthood with an indolent course punctuated by hyperammonemic episodes. Because symptoms mimic other neuropsychiatric disorders, it is common for there to be a delay in diagnosis, often with dire conse...

    journal_title:Annals of neurology

    pub_type: 杂志文章,评审

    doi:10.1002/ana.410350204

    authors: Batshaw ML

    更新日期:1994-02-01 00:00:00

  • Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency.

    abstract::Pyruvate dehydrogenase deficiency is a major cause of primary lactic acidosis and neurological dysfunction in infancy and early childhood. Most cases are caused by mutations in the X-linked gene for the E1alpha subunit of the complex. Mutations in DLAT, the gene encoding dihydrolipoamide acetyltransferase, the E2 core...

    journal_title:Annals of neurology

    pub_type: 杂志文章

    doi:10.1002/ana.20550

    authors: Head RA,Brown RM,Zolkipli Z,Shahdadpuri R,King MD,Clayton PT,Brown GK

    更新日期:2005-08-01 00:00:00

  • Evidence for a novel picornavirus in human dermatomyositis.

    abstract::We prepared RNA probes from cloned segments of human and murine enteroviruses (EVs) for in situ hybridization of skeletal muscle biopsies from patients with dermatomyositis (DM), polymyositis, other inflammatory myopathies, and noninflammatory muscle diseases, and from normal control subjects. A probe derived from The...

    journal_title:Annals of neurology

    pub_type: 杂志文章

    doi:10.1002/ana.410260204

    authors: Rosenberg NL,Rotbart HA,Abzug MJ,Ringel SP,Levin MJ

    更新日期:1989-08-01 00:00:00

  • Distinct biological and serological properties of human immunodeficiency viruses from the brain.

    abstract::Human immunodeficiency viruses from the brain can be distinguished from peripheral blood isolates by their ability to infect established human cell lines and their sensitivity to serum neutralization. Isolates from the brain and lymph nodes obtained from the same person displayed similar host range tropism and suscept...

    journal_title:Annals of neurology

    pub_type: 杂志文章

    doi:10.1002/ana.410230716

    authors: Cheng-Mayer C,Levy JA

    更新日期:1988-01-01 00:00:00

  • Focal cortical myoclonus and rolandic cortical dysplasia: clarification by magnetic resonance imaging.

    abstract::Focal cortical myoclonus is rare. Obvious causes include tumor or atrophy involving the motor strip, but in some cases no cause is apparent. We present 4 patients who started to have focal myoclonus in childhood. All had focal motor seizures as well, and one had recurrent focal motor status epilepticus. All 4 had a mi...

    journal_title:Annals of neurology

    pub_type: 杂志文章

    doi:10.1002/ana.410230402

    authors: Kuzniecky R,Berkovic S,Andermann F,Melanson D,Olivier A,Robitaille Y

    更新日期:1988-04-01 00:00:00

  • Selective neuronal nitric oxide synthase inhibitors and the prevention of cerebral palsy.

    abstract:OBJECTIVE:To design a new class of selective neuronal nitric oxide synthase (NOS) inhibitors, and demonstrate that administration in a rabbit model for cerebral palsy (CP) prevents hypoxia-ischemia-induced deaths and reduces the number of newborn kits exhibiting signs of CP. METHODS:We used a novel computer-based drug...

    journal_title:Annals of neurology

    pub_type: 杂志文章

    doi:10.1002/ana.21555

    authors: Ji H,Tan S,Igarashi J,Li H,Derrick M,Martásek P,Roman LJ,Vásquez-Vivar J,Poulos TL,Silverman RB

    更新日期:2009-02-01 00:00:00

  • Congenital muscular dystrophy with primary laminin alpha2 (merosin) deficiency presenting as inflammatory myopathy.

    abstract::Ten laminin alpha2-deficient patients were identified by both immunofluorescence and immunoblotting (30% of congenital muscular dystrophy patients tested). Three of the laminin alpha2-deficient patients were carrying a diagnosis of infantile polymyositis prior to immunostaining studies. The clinical features in the 10...

    journal_title:Annals of neurology

    pub_type: 杂志文章

    doi:10.1002/ana.410400515

    authors: Pegoraro E,Mancias P,Swerdlow SH,Raikow RB,Garcia C,Marks H,Crawford T,Carver V,Di Cianno B,Hoffman EP

    更新日期:1996-11-01 00:00:00

  • The acute effects of glycemic control on axonal excitability in human diabetics.

    abstract::In diabetic nerves, the activation of the polyol pathway and a resulting decrease in Na(+)-K(+) ATPase activity lead to intra-axonal Na(+) accumulation and a smaller Na(+) gradient across the axolemma than normal. To investigate whether glycemic control is associated with acutely reversible changes in axonal excitabil...

    journal_title:Annals of neurology

    pub_type: 临床试验,杂志文章

    doi:10.1002/ana.20232

    authors: Kitano Y,Kuwabara S,Misawa S,Ogawara K,Kanai K,Kikkawa Y,Yagui K,Hattori T

    更新日期:2004-10-01 00:00:00

  • Intranuclear inclusions in oculopharyngeal muscular dystrophy contain poly(A) binding protein 2.

    abstract::Intranuclear inclusions are one of the ultrastructural hallmarks of oculopharyngeal muscular dystrophy (OPMD), a disorder caused by small polyalanine (GCG) expansions in the gene that codes for a ubiquitous nuclear protein called poly(A) binding protein 2 (PABP2). We studied OPMD skeletal muscle and found that 1.0 to ...

    journal_title:Annals of neurology

    pub_type: 杂志文章

    doi:

    authors: Becher MW,Kotzuk JA,Davis LE,Bear DG

    更新日期:2000-11-01 00:00:00

  • The clinical syndrome of early-life bilateral hippocampal sclerosis.

    abstract::Four infants had bilateral hippocampal sclerosis by magnetic resonance scans, including oblique coronal fast spin echo images of the temporal lobes; [18F]fluorodeoxyglucose-positron emission tomographic scans, done in 2 infants, showed isolated bilateral anterior temporal lobe hypometabolism. All had epilepsy with epi...

    journal_title:Annals of neurology

    pub_type: 杂志文章

    doi:10.1002/ana.410420105

    authors: DeLong GR,Heinz ER

    更新日期:1997-07-01 00:00:00

  • Proton magnetic resonance spectroscopic imaging in patients with cerebellar degeneration.

    abstract::Using proton magnetic resonance spectroscopic imaging, we studied the cerebellum of 9 patients with cerebellar degeneration and of 9 age-matched normal control subjects. This technique permits the simultaneous measurement of N-acetylaspartate, choline-containing compounds, creatine/phosphocreatine, and lactate signal ...

    journal_title:Annals of neurology

    pub_type: 杂志文章

    doi:10.1002/ana.410390111

    authors: Tedeschi G,Bertolino A,Massaquoi SG,Campbell G,Patronas NJ,Bonavita S,Barnett AS,Alger JR,Hallett M

    更新日期:1996-01-01 00:00:00

  • Optimizing Patient Selection for Endovascular Treatment in Acute Ischemic Stroke (SELECT): A Prospective, Multicenter Cohort Study of Imaging Selection.

    abstract:OBJECTIVE:The primary imaging modalities used to select patients for endovascular thrombectomy (EVT) are noncontrast computed tomography (CT) and CT perfusion (CTP). However, their relative utility is uncertain. We prospectively assessed CT and CTP concordance/discordance and correlated the imaging profiles on both wit...

    journal_title:Annals of neurology

    pub_type: 杂志文章,多中心研究

    doi:10.1002/ana.25669

    authors: Sarraj A,Hassan AE,Grotta J,Sitton C,Cutter G,Cai C,Chen PR,Imam B,Pujara D,Arora A,Reddy S,Parsha K,Riascos RF,Vora N,Abraham M,Edgell R,Hellinger F,Haussen DC,Blackburn S,Kamal H,Barreto AD,Martin-Schild S,L

    更新日期:2020-03-01 00:00:00

  • Everolimus for subependymal giant cell astrocytoma: 5-year final analysis.

    abstract:OBJECTIVE:To analyze the cumulative efficacy and safety of everolimus in treating subependymal giant cell astrocytomas (SEGA) associated with tuberous sclerosis complex (TSC) from an open-label phase II study (NCT00411619). Updated data became available from the conclusion of the extension phase and are presented in th...

    journal_title:Annals of neurology

    pub_type: 杂志文章

    doi:10.1002/ana.24523

    authors: Franz DN,Agricola K,Mays M,Tudor C,Care MM,Holland-Bouley K,Berkowitz N,Miao S,Peyrard S,Krueger DA

    更新日期:2015-12-01 00:00:00

  • Mechanisms underlying cerebellar motor deficits due to mGluR1-autoantibodies.

    abstract::Patients with Hodgkin's disease can develop paraneoplastic cerebellar ataxia because of the generation of autoantibodies against mGluR1 (mGluR1-Abs). Yet, the pathophysiological mechanisms underlying their motor coordination deficits remain to be elucidated. Here, we show that application of IgG purified from the pati...

    journal_title:Annals of neurology

    pub_type: 杂志文章

    doi:10.1002/ana.10451

    authors: Coesmans M,Smitt PA,Linden DJ,Shigemoto R,Hirano T,Yamakawa Y,van Alphen AM,Luo C,van der Geest JN,Kros JM,Gaillard CA,Frens MA,de Zeeuw CI

    更新日期:2003-03-01 00:00:00

  • Anti-GM1 IgG antibodies induce leukocyte effector functions via Fcgamma receptors.

    abstract::Guillain-Barré syndrome (GBS) is an immune-mediated neuropathy, in which leukocytes and humoral components of the immune system proposedly initiate localized inflammation. An important pathogenic role for anti-GM1 ganglioside antibodies has been suggested. Therefore, we evaluated anti-GM1 IgG antibody-induced leukocyt...

    journal_title:Annals of neurology

    pub_type: 杂志文章

    doi:10.1002/ana.10503

    authors: van Sorge NM,van den Berg LH,Geleijns K,van Strijp JA,Jacobs BC,van Doorn PA,Wokke JH,van de Winkel JG,Leusen JH,van der Pol WL

    更新日期:2003-05-01 00:00:00

  • Identification of neuronal outgrowth cells from peripheral blood of stroke patients.

    abstract:OBJECTIVE:Recent studies have identified a subset of outgrowth cell population with endothelial phenotype in long-term cultures of peripheral blood mononuclear cells. The concept that peripheral blood-derived cells participate in neuronal regeneration remains highly controversial, and no specific cell type has been ide...

    journal_title:Annals of neurology

    pub_type: 杂志文章

    doi:10.1002/ana.21303

    authors: Jung KH,Chu K,Lee ST,Song EC,Sinn DI,Kim JM,Kim SJ,Kim JH,Kang KM,Park HK,Lee SH,Kim M,Lee SK,Roh JK

    更新日期:2008-03-01 00:00:00

  • Noradrenergic enhancement improves motor network connectivity in stroke patients.

    abstract:OBJECTIVE:Both animal and human data suggest that noradrenergic stimulation may enhance motor performance after brain damage. We conducted a placebo-controlled, double-blind and crossover design study to investigate the effects of noradrenergic stimulation on the cortical motor system in hemiparetic stroke patients. M...

    journal_title:Annals of neurology

    pub_type: 杂志文章

    doi:10.1002/ana.22237

    authors: Wang LE,Fink GR,Diekhoff S,Rehme AK,Eickhoff SB,Grefkes C

    更新日期:2011-02-01 00:00:00

  • Retrograde reactions of Clarke's nucleus neurons after human spinal cord injury.

    abstract::Successful axon regeneration depends on the expression of regeneration-associated genes by axotomized neurons. Here, we demonstrate, for the first time to our knowledge, the expression of regeneration-associated genes by axotomized human CNS neurons. In situ hybridization and immunohistochemistry showed a transient in...

    journal_title:Annals of neurology

    pub_type: 杂志文章

    doi:10.1002/ana.10724

    authors: Schmitt AB,Breuer S,Polat L,Pech K,Kakulas B,Love S,Martin D,Schoenen J,Noth J,Brook GA

    更新日期:2003-10-01 00:00:00

  • White matter lesions defined by diffusion tensor imaging in older adults.

    abstract:OBJECTIVE:The cellular and molecular mechanisms underlying magnetic resonance imaging-defined white matter (WM) changes associated with age-related cognitive decline remain poorly defined. We tested the hypothesis that WM lesions in older adults, defined by diffusion tensor imaging (DTI), arise in the setting of vascul...

    journal_title:Annals of neurology

    pub_type: 杂志文章

    doi:10.1002/ana.22484

    authors: Back SA,Kroenke CD,Sherman LS,Lawrence G,Gong X,Taber EN,Sonnen JA,Larson EB,Montine TJ

    更新日期:2011-09-01 00:00:00

  • Absence of N-acetylaspartate in the human brain: impact on neurospectroscopy?

    abstract::N-acetylaspartate (NAA) contributes to the most prominent signal in proton magnetic resonance spectroscopy (1H-MRS) of the adult human brain. We report the absence of NAA in the brain of a 3-year-old child with neurodevelopmental retardation and moderately delayed myelination. Since normal concentration of NAA in body...

    journal_title:Annals of neurology

    pub_type: 杂志文章

    doi:

    authors: Martin E,Capone A,Schneider J,Hennig J,Thiel T

    更新日期:2001-04-01 00:00:00

  • Retinal nerve fiber layer axonal loss and visual dysfunction in optic neuritis.

    abstract::Axonal loss is thought to be a likely cause of persistent disability after a multiple sclerosis relapse; therefore, noninvasive in vivo markers specific for axonal loss are needed. We used optic neuritis as a model of multiple sclerosis relapse to quantify axonal loss of the retinal nerve fiber layer (RNFL) and second...

    journal_title:Annals of neurology

    pub_type: 杂志文章

    doi:10.1002/ana.20575

    authors: Trip SA,Schlottmann PG,Jones SJ,Altmann DR,Garway-Heath DF,Thompson AJ,Plant GT,Miller DH

    更新日期:2005-09-01 00:00:00