Literature DB >> 3127087

Estimation of pyruvate dehydrogenase (E1) activity in human skeletal muscle; three cases with E1 deficiency.

H L van Laack1, W Ruitenbeek, J M Trijbels, R C Sengers, F J Gabreëls, A J Janssen, C M Kerkhof.   

Abstract

Pyruvate dehydrogenase (E1) catalyzes the rate-limiting step of the pyruvate dehydrogenase complex. Since E1 activity of human muscle tissue is low, a sensitive method is needed for diagnostic purposes. Measurement of 14CO2 production from [1-14C]pyruvate provides a specific and sensitive assay for measuring E1 activity. We use as artificial electron acceptor dichlorophenolindophenol (DCPIP) instead of the often applied ferricyanide. The method can be applied to small muscle samples obtained by needle or open biopsy. We prefer to use total homogenate because E1 activities in homogenate are higher than in the corresponding 600-g supernatant of skeletal muscle tissue. Control values in homogenate are higher or of the same order as those reported by others.

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Year:  1988        PMID： 3127087     DOI： 10.1016/0009-8981(88)90296-3

Source DB:  PubMed          Journal:  Clin Chim Acta        ISSN： 0009-8981            Impact factor:   3.786


  7 in total

1.  Glycogen storage disease, Fanconi nephropathy, abnormal galactose metabolism and mitochondrial myopathy.

Authors:  H Hurvitz; O N Elpeleg; V Barash; E Kerem; R M Reifen; W Ruitenbeek; C Mor; D Branski
Journal:  Eur J Pediatr       Date:  1989-10       Impact factor: 3.183

2.  Mitochondrial myopathy with lactic acidaemia, Fanconi-De Toni-Debré syndrome and a disturbed succinate: cytochrome c oxidoreductase activity.

Authors:  W Sperl; W Ruitenbeek; J M Trijbels; R C Sengers; A M Stadhouders; J P Guggenbichler
Journal:  Eur J Pediatr       Date:  1988-05       Impact factor: 3.183

Review 3.  Deficiency of the alpha and beta subunits of pyruvate dehydrogenase in a patient with lactic acidosis and unexpected sudden death.

Authors:  W Sperl; W Ruitenbeek; C M Kerkhof; R C Sengers; J M Trijbels; J P Guggenbichler; A J Janssen; J A Bakkeren
Journal:  Eur J Pediatr       Date:  1990-04       Impact factor: 3.183

4.  The first nuclear-encoded complex I mutation in a patient with Leigh syndrome.

Authors:  J Loeffen; J Smeitink; R Triepels; R Smeets; M Schuelke; R Sengers; F Trijbels; B Hamel; R Mullaart; L van den Heuvel
Journal:  Am J Hum Genet       Date:  1998-12       Impact factor: 11.025

5.  An amino acid substitution in the pyruvate dehydrogenase E1 alpha gene, affecting mitochondrial import of the precursor protein.

Authors:  F Takakubo; P Cartwright; N Hoogenraad; D R Thorburn; F Collins; T Lithgow; H H Dahl
Journal:  Am J Hum Genet       Date:  1995-10       Impact factor: 11.025

6.  Exercise intolerance, muscle pain and lactic acidaemia associated with a 7497G>A mutation in the tRNASer(UCN) gene.

Authors:  O Grafakou; F A Hol; K Otfried Schwab; M H Siers; H ter Laak; F Trijbels; R Ensenauer; C Boelen; J Smeitink
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

7.  Fatty acid transport protein 1 (FATP1) localizes in mitochondria in mouse skeletal muscle and regulates lipid and ketone body disposal.

Authors:  Maria Guitart; Oscar Osorio-Conles; Thais Pentinat; Judith Cebrià; Judit García-Villoria; David Sala; David Sebastián; Antonio Zorzano; Antonia Ribes; Josep C Jiménez-Chillarón; Celia García-Martínez; Anna M Gómez-Foix
Journal:  PLoS One       Date:  2014-05-23       Impact factor: 3.240
  7 in total

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