The pathogenic role of point mutations affecting the translational initiation codon of mitochondrial genes.

Abstract:

:The mutation T3308C results in a Met --> Thr change at the highly conserved amino acid position 1 of the mtDNA ND1 gene (M1T). To study its potential pathogenic effect we have carried out a combination of mitochondrial protein synthesis and Northern and Western analyses. Our data demonstrate that M1T mutation does not affect the efficiency of the synthesis of the ND1 polypeptide and suggest that any codon specifying methionine located close to the 5' end of mitochondrial mRNAs may be used as translational initiator.

journal_name

Mol Genet Metab

authors

Fernández-Moreno MA,Bornstein B,Campos Y,Arenas J,Garesse R

doi

10.1006/mgme.2000.3005

subject

Has Abstract

pub_date

2000-07-01 00:00:00

pages

238-40

issue

3

eissn

1096-7192

issn

1096-7206

pii

S1096719200930051

journal_volume

70

pub_type

杂志文章
  • The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle.

    abstract::The mitochondrial 13513G>A (D393N) mutation in the ND5 subunit of the respiratory chain complex I was initially described in association with MELAS syndrome. Recent observations have linked this mutation to Leigh disease. We screened for the 13513G>A mutation in a cohort of 265 patients with Leigh and Leigh-like disea...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2008.04.004

    authors: Brautbar A,Wang J,Abdenur JE,Chang RC,Thomas JA,Grebe TA,Lim C,Weng SW,Graham BH,Wong LJ

    更新日期:2008-08-01 00:00:00

  • Long-term intra-articular administration of recombinant human N-acetylgalactosamine-4-sulfatase in feline mucopolysaccharidosis VI.

    abstract::Degenerative joint disease (DJD) is one aspect of mucopolysaccharidosis VI (MPS VI) pathology that has proven resistant to systemic enzyme replacement therapy (ERT). In this study the effect of repeated intra-articular injections (IA INJ) of recombinant human acetylgalactosamine-4-sulfatase (rh4S) on DJD was examined....

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2007.04.009

    authors: Auclair D,Hopwood JJ,Lemontt JF,Chen L,Byers S

    更新日期:2007-08-01 00:00:00

  • Molecular analysis of the UROD gene in 17 Argentinean patients with familial porphyria cutanea tarda: characterization of four novel mutations.

    abstract::Porphyria cutanea tarda (PCT) is caused by decreased activity of uroporphyrinogen decarboxylase (UROD) in the liver. The disease usually occurs in adulthood and is characterized by cutaneous photosensitivity, hyperpigmentation, skin fragility and hypertrichosis, due to the accumulation of porphyrins produced by oxidat...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2012.02.002

    authors: Méndez M,Rossetti MV,Gómez-Abecia S,Morán-Jiménez MJ,Parera V,Batlle A,Enríquez de Salamanca R

    更新日期:2012-04-01 00:00:00

  • Plasma tetrahydrobiopterin and its pharmacokinetic following oral administration.

    abstract::Tetrahydrobiopterin (BH(4)) is widely used as a therapeutic agent in patients with BH(4) deficiencies and mild forms of phenylketonuria (PKU) and there is an increasing need for the measurement of its plasma concentrations in patients with cardiovascular disorders. We measured BH(4) and total biopterin in dithioerythr...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2003.09.014

    authors: Fiege B,Ballhausen D,Kierat L,Leimbacher W,Goriounov D,Schircks B,Thöny B,Blau N

    更新日期:2004-01-01 00:00:00

  • Use of TaqI digestion may lead to incorrect molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

    abstract::Congenital adrenal hyperplasia (CAH) is a common autosomal recessive disorder mainly caused by defects in the steroid 21-hydroxylase (CYP21) gene. For reliable and accurate mutation detection in the CYP21 gene it is important to separate the CYP21 gene from the highly homologous CYP21P pseudogene. For this, several di...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1006/mgme.2000.3023

    authors: Lee HH,de Wijs IJ,Sistermans EA

    更新日期:2000-08-01 00:00:00

  • Does a lower carbohydrate protein substitute impact on blood phenylalanine control, growth and appetite in children with PKU?

    abstract:BACKGROUND:In children with phenylketonuria (PKU), it is possible that high carbohydrate protein substitutes may adversely affect blood phenylalanine control. We evaluated if a low carbohydrate, 'ready-to-drink' protein substitute would impact on short term blood phenylalanine control, weight and appetite in children w...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章,随机对照试验

    doi:10.1016/j.ymgme.2011.09.014

    authors: Gokmen-Ozel H,Ferguson C,Evans S,Daly A,MacDonald A

    更新日期:2011-01-01 00:00:00

  • Long-term treatment with sodium phenylbutyrate in ornithine transcarbamylase-deficient patients.

    abstract::Ornithine transcarbamylase deficiency is a very heterogeneous urea cycle disorder resulting in hyperammonemia with various presentations from the neonatal period through adulthood. We performed a retrospective study in nine patients (four male/five female, age at diagnosis ranging from 6 days to 14 years) to evaluate ...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1006/mgme.2001.3156

    authors: Burlina AB,Ogier H,Korall H,Trefz FK

    更新日期:2001-04-01 00:00:00

  • Telomere length elongation after weight loss intervention in obese adults.

    abstract:INTRODUCTION:Telomeres may be considered markers of biological aging, shorter telomere length is associated with some age-related diseases; in several studies short telomere length has also been associated to obesity in adults and adolescents. However the relationship between telomere complex functions and obesity is s...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2016.04.003

    authors: Carulli L,Anzivino C,Baldelli E,Zenobii MF,Rocchi MB,Bertolotti M

    更新日期:2016-06-01 00:00:00

  • Hereditary renal hypouricemia.

    abstract::Hereditary renal hypouricemia (HRH) is an inborn error of renal membrane transport specific for uric acid, resulting in increased renal urate clearance associated with hypouricemia. Apparently in most HRH patients, the disorder is caused by loss of function mutations in the gene SLC22A12 coding for human urate transpo...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章,评审

    doi:10.1016/j.ymgme.2006.03.015

    authors: Sperling O

    更新日期:2006-09-01 00:00:00

  • Cerebral glucose metabolism in adults with early treated classic phenylketonuria.

    abstract::Classic phenylketonuria (PKU) is characterized by severe mental retardation in untreated individuals and mild neurocognitive abnormalities in some early treated adults. The exact biochemical mechanisms underlying this neurotoxicity remain undetermined. Several theories implicate abnormal cerebral energy utilization an...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2005.06.010

    authors: Wasserstein MP,Snyderman SE,Sansaricq C,Buchsbaum MS

    更新日期:2006-03-01 00:00:00

  • Psychosine, a marker of Krabbe phenotype and treatment effect.

    abstract::Newborn screening (NBS) for Krabbe disease, a rare neurodegenerative disorder caused by deficient galactocerebrosidase (GALC) enzyme activity, has recently been implemented in a number of US states. However, the spectrum of phenotypic manifestations associated with deficient GALC activity complicates the management of...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2017.05.015

    authors: Escolar ML,Kiely BT,Shawgo E,Hong X,Gelb MH,Orsini JJ,Matern D,Poe MD

    更新日期:2017-07-01 00:00:00

  • Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials.

    abstract:OBJECTIVE:To evaluate the efficacy and safety of dietary lysine restriction as an adjunct to pyridoxine therapy on biochemical parameters, seizure control, and developmental/cognitive outcomes in children with pyridoxine-dependent epilepsy (PDE) caused by antiquitin (ATQ) deficiency. METHODS:In this observational stud...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章,多中心研究

    doi:10.1016/j.ymgme.2012.09.006

    authors: van Karnebeek CD,Hartmann H,Jaggumantri S,Bok LA,Cheng B,Connolly M,Coughlin CR 2nd,Das AM,Gospe SM Jr,Jakobs C,van der Lee JH,Mercimek-Mahmutoglu S,Meyer U,Struys E,Sinclair G,Van Hove J,Collet JP,Plecko BR,Stockler

    更新日期:2012-11-01 00:00:00

  • Leber congenital amaurosis.

    abstract::Leber's congenital amaurosis (LCA) is the earliest and most severe form of all inherited retinal dystrophies responsible for congenital blindness. Genetic heterogeneity of LCA has been suspected since the report by Waardenburg of normal children born to affected parents. In 1995, we localized the first disease causing...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章,评审

    doi:10.1006/mgme.1999.2906

    authors: Perrault I,Rozet JM,Gerber S,Ghazi I,Leowski C,Ducroq D,Souied E,Dufier JL,Munnich A,Kaplan J

    更新日期:1999-10-01 00:00:00

  • A newly generated neuronal cell model of CLN7 disease reveals aberrant lysosome motility and impaired cell survival.

    abstract::Mutations in the CLN7/MFSD8 gene encoding the lysosomal membrane protein CLN7 are causative of CLN7 disease, an inherited neurodegenerative disorder that typically affects children. To gain insight into the pathomechanisms of CLN7 disease, we established an immortalized cell line based on cerebellar (Cb) granule neuro...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2018.09.009

    authors: von Kleist L,Ariunbat K,Braren I,Stauber T,Storch S,Danyukova T

    更新日期:2019-02-01 00:00:00

  • Three novel deletions in the alanine:glyoxylate aminotransferase gene of three patients with type 1 hyperoxaluria.

    abstract::We describe three novel deletions in the human AGT gene in three patients with primary hyperoxaluria type 1, an autosomal recessive disease resulting from a deficiency of the liver peroxisomal enzyme, alanine glyoxylate aminotransferase (AGT; EC 2.6.1.44). A deletion of 4 nucleotides in the exon 6/intron 6 splice junc...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1006/mgme.2001.3222

    authors: Coulter-Mackie MB,Rumsby G,Applegarth DA,Toone JR

    更新日期:2001-11-01 00:00:00

  • Barth syndrome in a female patient.

    abstract:BACKGROUND:Barth syndrome (BTHS) is an X-linked recessive disorder characterized by cardiomyopathy, skeletal myopathy and cyclic neutropenia in male patients. It is caused by mutations in the TAZ gene coding for the tafazzin, a protein involved in the remodeling of cardiolipin. Loss of cardiolipin in the inner mitochon...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2012.01.015

    authors: Cosson L,Toutain A,Simard G,Kulik W,Matyas G,Guichet A,Blasco H,Maakaroun-Vermesse Z,Vaillant MC,Le Caignec C,Chantepie A,Labarthe F

    更新日期:2012-05-01 00:00:00

  • Lipolysis and the integrated physiology of lipid energy metabolism.

    abstract::Fat cell lipolysis, the cleavage of triglycerides and release of fatty acids and glycerol, evolved to enable survival during prolonged food deprivation but is paradoxically increased in obesity, in which a surfeit of all energy metabolites is found. Essential, previously-unsuspected components have been discovered in ...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章,评审

    doi:10.1016/j.ymgme.2008.06.012

    authors: Wang S,Soni KG,Semache M,Casavant S,Fortier M,Pan L,Mitchell GA

    更新日期:2008-11-01 00:00:00

  • Co-inheritance of a novel deletion of the entire SPINK1 gene with a CFTR missense mutation (L997F) in a family with chronic pancreatitis.

    abstract::Quantitative fluorescent multiplex PCR (QFM-PCR) was established in order to make possible the rapid and efficient mutational analysis of the pancreatic secretory trypsin inhibitor (SPINK1) gene. Using QFM-PCR, a novel heterozygous deletion encompassing the entire SPINK1 gene was identified in one of nine newly recrui...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2007.06.006

    authors: Masson E,Le Maréchal C,Levy P,Chuzhanova N,Ruszniewski P,Cooper DN,Chen JM,Férec C

    更新日期:2007-09-01 00:00:00

  • A combined therapeutic approach for pyruvate dehydrogenase deficiency using self-complementary adeno-associated virus serotype-specific vectors and dichloroacetate.

    abstract::We determined the ability of self-complementary adeno-associated virus (scAAV) vectors to deliver and express the pyruvate dehydrogenase E1alpha subunit gene (PDHA1) in primary cultures of skin fibroblasts from 3 patients with defined mutations in PHDA1 and 3 healthy subjects. Cells were transduced with scAAV vectors ...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2007.10.131

    authors: Han Z,Berendzen K,Zhong L,Surolia I,Chouthai N,Zhao W,Maina N,Srivastava A,Stacpoole PW

    更新日期:2008-04-01 00:00:00

  • Apoptosis accompanied by up-regulation of TNF-alpha death pathway genes in the brain of Niemann-Pick type C disease.

    abstract::Niemann-Pick disease type C (NP-C) is an autosomal recessive neurovisceral storage disease with neurodegeneration caused by mutations in either the NPC-1 or NPC-2 gene. The murine ortholog of NPC-1 is mutated in BALB/c npc(nih) and this mutant mouse shows equally conspicuous neurodegeneration and loss of neurons. Howe...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2004.08.017

    authors: Wu YP,Mizukami H,Matsuda J,Saito Y,Proia RL,Suzuki K

    更新日期:2005-01-01 00:00:00

  • Molecular genetics of HMG-CoA lyase deficiency.

    abstract::3-Hydroxy-3-methylglutaryl-CoA lyase (HL) deficiency is a rare autosomal recessive genetic disorder that affects ketogenesis and l-leucine catabolism, which generally appears during the first year of life. Patients with HL deficiency have a reduced capacity to synthesize ketone bodies. The disease is caused by lethal ...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章,评审

    doi:10.1016/j.ymgme.2007.06.020

    authors: Pié J,López-Viñas E,Puisac B,Menao S,Pié A,Casale C,Ramos FJ,Hegardt FG,Gómez-Puertas P,Casals N

    更新日期:2007-11-01 00:00:00

  • Reevaluation of neuronal ceroid lipofuscinoses: atypical juvenile onset may be the result of CLN2 mutations.

    abstract::This study describes the phenotype/genotype analyses of 56 probands with a juvenile onset, some of which had atypical features of neuronal ceroid lipofuscinosis, collected at the New York State Institute for Basic Research (IBR). In this group, we found probands with abundant curvilinear profiles in lysosomal storage ...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1006/mgme.1999.2814

    authors: Wisniewski KE,Kaczmarski A,Kida E,Connell F,Kaczmarski W,Michalewski MP,Moroziewicz DN,Zhong N

    更新日期:1999-04-01 00:00:00

  • Folate-homocysteine interrelations: potential new markers of folate status.

    abstract::We report a transient drop in plasma Hcy and Cys following a single oral dose of PteGlu. The thiol change was concomitant with both the peak plasma 5CH3H4PteGlu1 level (by HPLC) and the maximum plasma Lactobacillus casei activity which reflects absorption of unmodified PteGlu. The significant reciprocal association of...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1006/mgme.1999.2813

    authors: Lucock MD,Daskalakis I,Schorah CJ,Lumb CH,Oliver M,Devitt H,Wild J,Dowell AC,Levene MI

    更新日期:1999-05-01 00:00:00

  • Low plasma total cholesterol in patients with Huntington's disease and first-degree relatives.

    abstract::Recent studies indicate altered cholesterol homeostasis in Huntington's disease (HD) after it was found that cultured human and mice cells expressing mutant huntingtin show reduced mRNA of cholesterol biosynthetic enzymes. Plasma total cholesterol (TC) levels have been connected to degenerative disorders, but data for...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2007.10.002

    authors: Markianos M,Panas M,Kalfakis N,Vassilopoulos D

    更新日期:2008-03-01 00:00:00

  • Approach to gene therapy of glycogenosis type II (Pompe disease).

    abstract::Pompe disease is a generalized lysosomal glycogenosis affecting essentially the skeletal muscles and the heart. It is due to the deficiency of acid alpha-glucosidase, also called acid maltase, involved in glycogen degradation by the cleavage of alpha-1,4 and alpha-1,6 glycosidic linkages. The severe infantile, milder ...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章,评审

    doi:10.1006/mgme.2000.3003

    authors: Poenaru L

    更新日期:2000-07-01 00:00:00

  • 1Alpha,25-dihydroxy-3-epi-vitamin D3, a natural metabolite of 1alpha,25-dihydroxy vitamin D3: production and biological activity studies in pulmonary alveolar type II cells.

    abstract::Pulmonary alveolar type II cells have been shown to be a possible target for the secosteroid hormone, 1alpha,25-dihydroxyvitamin D3 [1alpha,25(OH)2D3], during perinatal transition. At present, there is great interest to isolate and identify the metabolites of 1alpha,25(OH)2D3 produced in its target tissues and to dete...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/s1096-7192(02)00022-7

    authors: Rehan VK,Torday JS,Peleg S,Gennaro L,Vouros P,Padbury J,Rao DS,Reddy GS

    更新日期:2002-05-01 00:00:00

  • Cardiac phenotype in propionic acidemia - Results of an observational monocentric study.

    abstract:BACKGROUND:Propionic acidemia (PA) is an organic aciduria caused by inherited deficiency of propionyl-CoA carboxylase. Left ventricular dysfunction and QT prolongation may lead to life-threatening complications. Systematic analyses of cardiac phenotypes, in particular effects of specific cardiac therapies, are scarce. ...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2020.02.004

    authors: Kovacevic A,Garbade SF,Hoffmann GF,Gorenflo M,Kölker S,Staufner C

    更新日期:2020-05-01 00:00:00

  • Swallowing dysfunction in patients with nephropathic cystinosis.

    abstract:INTRODUCTION:Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene. Patients with nephropathic cystinosis suffer not only from renal disease but have also other systemic complications like myopathy and swallowing dysfunction. Dysphagia for solid food is me...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2019.01.011

    authors: van Rijssel AE,Knuijt S,Veys K,Levtchenko EN,Janssen MCH

    更新日期:2019-04-01 00:00:00

  • Human liver-specific very-long-chain acyl-coenzyme A synthetase: cDNA cloning and characterization of a second enzymatically active protein.

    abstract::Activation of fatty acids, catalyzed by acyl-coenzyme A (acyl-CoA) synthetases, is required for their subsequent metabolism. Peroxisomes and microsomes contain very-long-chain acyl-CoA synthetases (VLCSs) capable of activating fatty acids with a chain length of 22 or more carbons. Decreased peroxisomal VLCS activity i...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1006/mgme.1999.2883

    authors: Steinberg SJ,Wang SJ,McGuinness MC,Watkins PA

    更新日期:1999-09-01 00:00:00

  • Activity of daily living for Morquio A syndrome.

    abstract::The aim of this study was to evaluate the activity of daily living (ADL) and surgical interventions in patients with mucopolysaccharidosis IVA (MPS IVA). The factor(s) that affect ADL are age, clinical phenotypes, surgical interventions, therapeutic effect, and body mass index. The ADL questionnaire comprises three do...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2016.04.005

    authors: Yasuda E,Suzuki Y,Shimada T,Sawamoto K,Mackenzie WG,Theroux MC,Pizarro C,Xie L,Miller F,Rahman T,Kecskemethy HH,Nagao K,Morlet T,Shaffer TH,Chinen Y,Yabe H,Tanaka A,Shintaku H,Orii KE,Orii KO,Mason RW,Montaño AM

    更新日期:2016-06-01 00:00:00