当前位置： SCI文献检索 > JOURNAL OF INHERITED METABOLIC DISEASE期刊下所有文献 > Toxic response caused by a misfolding variant of the mitochondrial protein short-chain acyl-CoA dehydrogenase.

Toxic response caused by a misfolding variant of the mitochondrial protein short-chain acyl-CoA dehydrogenase.

Abstract：

BACKGROUND:Variations in the gene ACADS, encoding the mitochondrial protein short-chain acyl CoA-dehydrogenase (SCAD), have been observed in individuals with clinical symptoms. The phenotype of SCAD deficiency (SCADD) is very heterogeneous, ranging from asymptomatic to severe, without a clear genotype-phenotype correlation, which suggests a multifactorial disorder. The pathophysiological relevance of the genetic variations in the SCAD gene is therefore disputed, and has not yet been elucidated, which is an important step in the investigation of SCADD etiology. AIM:To determine whether the disease-associated misfolding variant of SCAD protein, p.Arg107Cys, disturbs mitochondrial function. METHODS:We have developed a cell model system, stably expressing either the SCAD wild-type protein or the misfolding SCAD variant protein, p.Arg107Cys (c.319 C > T). The model system was used for investigation of SCAD with respect to expression, degree of misfolding, and enzymatic SCAD activity. Furthermore, cell proliferation and expression of selected stress response genes were investigated as well as proteomic analysis of mitochondria-enriched extracts in order to study the consequences of p.Arg107Cys protein expression using a global approach. CONCLUSIONS:We found that expression of the p.Arg107Cys variant SCAD protein gives rise to inactive misfolded protein species, eliciting a mild toxic response manifested though a decreased proliferation rate and oxidative stress, as shown by an increased demand for the mitochondrial antioxidant SOD2. In addition, we found markers of apoptotic activity in the p.Arg107Cys expressing cells, which points to a possible pathophysiological role of this variant protein.

journal_name

J Inherit Metab Dis

journal_title

Journal of inherited metabolic disease

authors

Schmidt SP,Corydon TJ,Pedersen CB,Vang S,Palmfeldt J,Stenbroen V,Wanders RJ,Ruiter JP,Gregersen N

doi

10.1007/s10545-010-9255-7

subject

Has Abstract

pub_date

2011-04-01 00:00:00

pages

465-75

issue

2

eissn

0141-8955

issn

1573-2665

journal_volume

34

pub_type

杂志文章

相关文献

JOURNAL OF INHERITED METABOLIC DISEASE文献大全
  • Collagen atomic scale molecular disorder in ochronotic cartilage from an alkaptonuria patient, observed by solid state NMR.

    abstract：UNLABELLED:In pilot studies of the usefulness of solid state nuclear magnetic resonance spectroscopy in characterizing chemical and molecular structural effects of alkaptonuria on connective tissue, we have obtained (13) C spectra from articular cartilage from an AKU patient. An apparently normal anatomical location yi...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-011-9373-x

    authors： Chow WY,Taylor AM,Reid DG,Gallagher JA,Duer MJ

    更新日期：2011-12-01 00:00:00

  • Some nutritional aspects of trace metals.

    abstract：:A brief outline of the known biochemical roles of manganese and chromium is given before the problems of determining human trace metal status are discussed. The factors predisposing to trace metal deficiency are reviewed but particular emphasis is placed upon those which alter the bioavailability of essential trace me...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,评审

    doi：10.1007/BF01811319

    authors： Aggett PJ,Davies NT

    更新日期：1983-01-01 00:00:00

  • Lactic acidosis in long-chain fatty acid beta-oxidation disorders.

    abstract：:Among the many disorders of fatty acid beta-oxidation known today, the disorders of long-chain fatty acid oxidation are the most severe and life-threatening. One remarkable abnormality, not observed in, for instance, medium-chain acyl-CoA dehydrogenase deficiency, is the moderate to severe lactic acidaemia in long-cha...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1023/a:1005480516801

    authors： Ventura FV,Ruiter JP,IJlst L,de Almeida IT,Wanders RJ

    更新日期：1998-08-01 00:00:00

  • The iduronate sulphatase activities of cells and tissue fluids from patients with Hunter syndrome and normal controls.

    abstract：:The substrate O-(alpha-L-idopyranosyluronic acid-2-sulphate)-(1 leads to 4)-2,5-anhydro-D-(3H-1) mannitol-6-sulphate was used at a final concentration of 50 mmol/l to measure the alpha-L-idurono-2-sulphate sulphatase activities of cell extracts, serum and amniotic fluid. Activities were measured after dialysis against...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/BF01800738

    authors： Dean MF

    更新日期：1983-01-01 00:00:00

  • 5,10-Methylenetetrahydrofolate reductase deficiency. Clinical and biochemical features of a further case.

    abstract：:We report the case of a boy with 5,10-methylenetetrahydrofolate reductase deficiency. The clinical features consisted of severe mental retardation, spasticity and seizures remaining static to 7 years of age followed by a phase of rapid deterioration and death at 7 1/2 years of age. The main biochemical findings were h...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/BF01801662

    authors： Haan EA,Rogers JG,Lewis GP,Rowe PB

    更新日期：1985-01-01 00:00:00

  • Pompe's disease in Chinese and prenatal diagnosis by determination of alpha-glucosidase activity.

    abstract：:We measured the activities of two major forms of alpha-glucosidase in lymphocytes and cultured fibroblasts from normal healthy controls and patients with Pompe's disease by using 4-methylumbelliferyl-alpha-D-glucoside as substrate. We found (1) enzyme activity of the pH 4 and pH 6 forms varied with age, and (2) patien...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/BF01799482

    authors： Lin CY,Hwang B,Hsiao KJ,Jin YR

    更新日期：1987-01-01 00:00:00

  • Continuous glucose monitoring in children with glycogen storage disease type I.

    abstract：:Glycogen storage disease type I (GSD I) is characterized by impaired production of glucose from glycogenolysis and gluconeogenesis resulting in severe fasting hypoglycaemia. The aim of the present study was to examine the efficacy of a continuous subcutaneous glucose monitoring system (CGMS MiniMed), to determine the ...

    journal_title：Journal of inherited metabolic disease

    pub_type： 临床试验,杂志文章

    doi：10.1023/a:1013996325720

    authors： Hershkovitz E,Rachmel A,Ben-Zaken H,Phillip M

    更新日期：2001-12-01 00:00:00

  • Pilot study of screening for Wilson disease using dried blood spots obtained from children seen at outpatient clinics.

    abstract：:Wilson disease (WD) is an autosomal recessive disorder of copper accumulation leading to liver and/or brain damage. In this paper, we describe the results of a pilot study of screening for WD using ceruloplasmin determinations in dried blood samples. Specimens were collected from children aged 1 to 6 years who were se...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1023/a:1005455401076

    authors： Ohura T,Abukawa D,Shiraishi H,Yamaguchi A,Arashima S,Hiyamuta S,Tada K,Iinuma K

    更新日期：1999-02-01 00:00:00

  • Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome.

    abstract：:Brown-Vialetto-Van Laere syndrome (BVVLS [MIM 211530]) is a rare neurological disorder characterized by infancy onset sensorineural deafness and ponto-bulbar palsy. Mutations in SLC52A3 (formerly C20orf54), coding for riboflavin transporter 2 (hRFT2), have been identified as the molecular genetic correlate in several ...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-012-9513-y

    authors： Haack TB,Makowski C,Yao Y,Graf E,Hempel M,Wieland T,Tauer U,Ahting U,Mayr JA,Freisinger P,Yoshimatsu H,Inui K,Strom TM,Meitinger T,Yonezawa A,Prokisch H

    更新日期：2012-11-01 00:00:00

  • Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: a cautionary note.

    abstract：:We report a 5-year-old child carrying polymerase gamma (POLG1) mutations, but strikingly normal oxidative phosphorylation analysis in muscle, fibroblasts and liver. Mutations in POLG1 have so far been described in children with severe combined oxidative phosphorylation (OXPHOS) deficiencies and with the classical Alpe...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-008-0871-4

    authors： de Vries MC,Rodenburg RJ,Morava E,Lammens M,van den Heuvel LP,Korenke GC,Smeitink JA

    更新日期：2008-12-01 00:00:00

  • Insights into human phosphoglycerate kinase 1 deficiency as a conformational disease from biochemical, biophysical, and in vitro expression analyses.

    abstract：:Mutations in genes encoding metabolic enzymes are often the cause of inherited diseases. Mutations usually affect the ability of proteins to fold properly, thus leading to enzyme loss of function. In this work, we explored the relationships between protein stability, aggregation, and degradation in vitro and inside ce...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-014-9721-8

    authors： Pey AL,Maggi M,Valentini G

    更新日期：2014-11-01 00:00:00

  • Transcranial electrical stimulation (tES) mechanisms and its effects on cortical excitability and connectivity.

    abstract：:In this review, we describe transcranial electrical stimulation (tES) techniques currently being used in neuroscientific research, including transcranial direct current (tDCS), alternating current (tACS) and random noise (tRNS) stimulation techniques. We explain how these techniques are used and summarise the proposed...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,评审

    doi：10.1007/s10545-018-0181-4

    authors： Reed T,Cohen Kadosh R

    更新日期：2018-07-13 00:00:00

  • Fasting, postprandial, and post-methionine-load homocysteinaemia and methylenetetrahydrofolate reductase polymorphism in vascular disease.

    abstract：:Hyperhomocysteinaemia is an independent risk factor for cardiovascular disease. The C677T mutation of the methylenetetrahydrofolate reductase (MTHFR) is a common genetic cause of increased homocysteine (HCY) levels. Post-methionine-load HCY concentrations allow identification of certain cases of hyperhomocysteinaemia ...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1023/a:1005513626542

    authors： Candito M,Bedoucha P,Gibelin P,Jambou D,de Franchis R,Sadoul JL,Chatel M,Van Obberghen E

    更新日期：1999-06-01 00:00:00

  • Tay-Sachs disease heterozygote detection in Brazil: comparison between tears and leukocytes as beta-hexosaminidase A source.

    abstract：:Hexosaminidase A activities were determined in tears and peripheral leukocytes of carriers and noncarriers for Tay-Sachs Disease (TSD) as a percentage of total hexosaminidase activity. Correlation between enzyme activities in tears and leukocytes was highly significant (r = 0.75, p less than 0.01). Compared to leukocy...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/BF01805619

    authors： Buchalter MS,Wannmacher CM,Wajner M

    更新日期：1984-01-01 00:00:00

  • Diagnosing mucopolysaccharidosis IVA.

    abstract：:Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is an autosomal recessive lysosomal storage disorder resulting from a deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS) activity. Diagnosis can be challenging and requires agreement of clinical, radiographic, and laboratory findings. A group of bioc...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-013-9587-1

    authors： Wood TC,Harvey K,Beck M,Burin MG,Chien YH,Church HJ,D'Almeida V,van Diggelen OP,Fietz M,Giugliani R,Harmatz P,Hawley SM,Hwu WL,Ketteridge D,Lukacs Z,Miller N,Pasquali M,Schenone A,Thompson JN,Tylee K,Yu C,Hendri

    更新日期：2013-03-01 00:00:00

  • Cobalamin C defect: natural history, pathophysiology, and treatment.

    abstract：:Cobalamin C (Cbl-C) defect is the most common inborn cobalamin metabolism error; it causes impaired conversion of dietary vitamin B12 into its two metabolically active forms, methylcobalamin and adenosylcobalamin. Cbl-C defect causes the accumulation of methylmalonic acid and homocysteine and decreased methionine synt...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,评审

    doi：10.1007/s10545-010-9161-z

    authors： Martinelli D,Deodato F,Dionisi-Vici C

    更新日期：2011-02-01 00:00:00

  • Variation in mitochondrial DNA levels in muscle from normal controls. Is depletion of mtDNA in patients with mitochondrial myopathy a distinct clinical syndrome.

    abstract：:Recent studies have identified a group of patients with cytochrome oxidase (COX) deficiency presenting in infancy associated with a deficiency of mtDNA in muscle or other affected tissue (Moraes et al 1991). We used a novel approach to compare the level of mitochondrial (mtDNA) compared to nuclear DNA in skeletal musc...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/BF00711367

    authors： Poulton J,Sewry C,Potter CG,Bougeron T,Chretien D,Wijburg FA,Morten KJ,Brown G

    更新日期：1995-01-01 00:00:00

  • Expanded newborn screening in New South Wales: missed cases.

    abstract：:There have been few reports of cases missed by expanded newborn screening. Tandem mass spectrometry was introduced in New South Wales, Australia in 1998 to screen for selected disorders of amino acid, organic acid and fatty acid metabolism. Of 1,500,000 babies screened by 2012, 1:2700 were diagnosed with a target diso...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-014-9727-2

    authors： Estrella J,Wilcken B,Carpenter K,Bhattacharya K,Tchan M,Wiley V

    更新日期：2014-11-01 00:00:00

  • Normal glycine transport in cultured diploid fibroblasts from hyperglycinaemic subjects.

    abstract：:The glycine uptake in cultured fibroblasts was studied in three children with non-ketotic hyperglycinaemia, one child with D-glyceric acidaemia and hyperglycinaemia and in six normal children, using an improved assay system giving individual protein correction. It was shown that all hyperglycinaemic children had norma...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/BF02338974

    authors： Kølvraa S,Rosleff F,Brandt NJ

    更新日期：1983-01-01 00:00:00

  • Amino acids: analytical aspects.

    abstract：:This workshop was organized as a direct response to concerns and queries raised by laboratory personnel, both in Europe and in the United States, about the imminent withdrawal of Beckman Coulter from the amino acid analysis market. The topics covered included external quality control schemes, standard operating proced...

    journal_title：Journal of inherited metabolic disease

    pub_type：

    doi：10.1023/a:1010343707174

    authors： Mayne PD,Roche G,Deverell D

    更新日期：2001-04-01 00:00:00

  • Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency.

    abstract：BACKGROUND:Arginase 1 (ARG1) deficiency is a rare urea cycle disorder (UCD). This hypothesis-generating study explored clinical phenotypes, metabolic profiles, molecular genetics, and treatment approaches in a cohort of children and adults with ARG1 deficiency to add to our understanding of the underlying pathophysiolo...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-016-9928-y

    authors： Huemer M,Carvalho DR,Brum JM,Ünal Ö,Coskun T,Weisfeld-Adams JD,Schrager NL,Scholl-Bürgi S,Schlune A,Donner MG,Hersberger M,Gemperle C,Riesner B,Ulmer H,Häberle J,Karall D

    更新日期：2016-05-01 00:00:00

  • Neurological manifestations in patients with Gaucher disease and their relatives, it is just a coincidence?

    abstract：:Gaucher disease (GD) is an autosomal recessive disorder characterized by defective function of glucocerebrosidase. GD presents a wide spectrum of manifestations, and patients and their relatives may develop neurological abnormalities more frequently than the general population. This study aims to determine the presenc...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-011-9298-4

    authors： Giraldo P,Capablo JL,Alfonso P,Garcia-Rodriguez B,Latre P,Irun P,de Cabezon AS,Pocovi M

    更新日期：2011-06-01 00:00:00

  • Assessment of homocysteine status.

    abstract：:Plasma total homocysteine (tHcy) determination is used in the diagnosis of homocystinuria, in cobalamin and folate deficiency and in cardiovascular risk assessment. However, determination of tHcy includes many pitfalls which complicate the assessment of homocysteine status. In the present article, we review basic know...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,评审

    doi：10.1023/a:1005321225893

    authors： Refsum H,Fiskerstrand T,Guttormsen AB,Ueland PM

    更新日期：1997-06-01 00:00:00

  • Mortality and cause of death in mucopolysaccharidosis type II-a historical review based on data from the Hunter Outcome Survey (HOS).

    abstract：:Mucopolysaccharidosis type II (MPS II or Hunter syndrome) is a progressive, multisystemic disease caused by a deficiency of iduronate-2-sulfatase. Patients with the severe form of the disease have cognitive impairment and typically die in the second decade of life. Patients with the less severe form do not experience ...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-009-1119-7

    authors： Jones SA,Almássy Z,Beck M,Burt K,Clarke JT,Giugliani R,Hendriksz C,Kroepfl T,Lavery L,Lin SP,Malm G,Ramaswami U,Tincheva R,Wraith JE,HOS Investigators.

    更新日期：2009-08-01 00:00:00

  • Pattern reversal visual evoked potentials in phenylketonuria.

    abstract：:The pathogenesis of brain dysfunction in phenylketonuria (PKU) is still under investigation. Hyperphenylalaninaemia results in increased turnover of myelin. In order to demonstrate the derangement of myelinization in PKU we studied the visual evoked potentials (VEP) in 14 PKU patients and in 20 normal subjects. VEP fi...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/BF01800430

    authors： Giovannini M,Valsasina R,Villani R,Ducati A,Riva E,Landi A,Longhi R

    更新日期：1988-01-01 00:00:00

  • LC-MS/MS method for the differential diagnosis of treatable early onset inherited metabolic epilepsies.

    abstract：:Rapid diagnosis and early specific treatment of metabolic epilepsies due to inborn errors of metabolism (IEMs) is crucial to avoid irreversible sequalae. Nowadays, besides the profile analysis of amino- and organic acids, a range of additional targeted assays is used for the selective screening of those diseases. This...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1002/jimd.12244

    authors： Mathis D,Beese K,Rüegg C,Plecko B,Hersberger M

    更新日期：2020-09-01 00:00:00

  • Evidence for oxidative stress in tissues derived from succinate semialdehyde dehydrogenase-deficient mice.

    abstract：:Animal models of inborn errors of metabolism are useful for investigating the pathogenesis associated with the corresponding human disease. Since the mechanisms involved in the pathophysiology of succinate semialdehyde dehydrogenase (SSADH) deficiency (Aldh5a1; OMIM 271980) are still not established, in the present st...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-007-0599-6

    authors： Latini A,Scussiato K,Leipnitz G,Gibson KM,Wajner M

    更新日期：2007-10-01 00:00:00

  • Short-term effect of captopril on microalbuminuria in children with glycogen storage disease type Ia.

    abstract：:Early signs of renal dysfunction in glycogen storage disease type Ia (GSD Ia) are glomerular hyperfiltration and proteinuria. In a non-randomized study, the effect of captopril on the improvement of proteinuria in GSD Ia patients with microalbuminuria was investigated. A positive effect has been shown for the insulin-...

    journal_title：Journal of inherited metabolic disease

    pub_type： 临床试验,杂志文章

    doi：10.1023/a:1005608113270

    authors： Ozen H,Ciliv G,Koçak N,Saltik IN,Yüce A,Gürakan F

    更新日期：2000-07-01 00:00:00

  • Mucolipidosis IV fibroblasts synthesize normal amounts of hyaluronic acid.

    abstract：:Mucolipidosis IV (ML IV) (McKusick 252650) is an autosomal recessive metabolic disorder that displays signs of both lipid and mucopolysaccharide (glycosaminoglycan) storage. It has been reported that fibroblasts from ML IV patients exhibit abnormally high synthesis of hyaluronic acid in culture. In our search for a bi...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/BF00711589

    authors： Goldin E,Imai Y,Kaneski CR,Pentchev PG,Brady RO,Hascall VC

    更新日期：1994-01-01 00:00:00

  • Role of miRNAs in human disease and inborn errors of metabolism.

    abstract：:MicroRNAs (miRNAs) are short, noncoding RNAs that regulate gene expression posttranscriptionally by base pairing with target messenger RNAs (mRNAs). They are estimated to target ∼60% of all human protein-coding genes and are involved in regulating key physiological processes and intracellular signaling pathways. They ...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,评审

    doi：10.1007/s10545-017-0018-6

    authors： Rivera-Barahona A,Pérez B,Richard E,Desviat LR

    更新日期：2017-07-01 00:00:00