Abstracts - faqs.org

Abstracts

Biological sciences

Search abstracts:
Abstracts » Biological sciences

Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu

Article Abstract:

A study is reported involving two infants affected by neonatal lactic acidosis, rapidly progressive encephalopathy, severely decreased mitochondrial protein synthesis and combined deficiency of mitochondrial DNA (mtDNA)-related mitochondrial respiratory chain (MRC) complexes. Genetic investigation of this defective mtDNA translation reveals novel mutations in the mitochondrial elongation factor G1 (EFG 1) and mitochondrial elongation factor Tu (EFTu) in the infants.

Author: Zeviani, Massimo, Donnini, Claudia, Valente, Lucia, Tiranti, Valeria, Marsano, Rene Massimiliano, Malfatti, Edoardo, Fernandez-Vizarra, Erika, Mereghetti, Paolo, De Gioia, Luca, Burlina, Alberto, Castellan, Claudio, Comi, Giacomo P., Savasta, Salvatore, Ferrero, Iliana
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
Genetic translation, Translation (Genetics), Report

User Contributions:

Comment about this article or add new information about this topic:

CAPTCHA


Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction

Article Abstract:

A study is conducted to identify two de novo heterozygous missense mutations of a conserved amino acid in the basic region of the TCF4 gene in three subjects with Pitt-Hopkins syndrome (PHS). The findings demonstrate that TCF4 anomalies are responsible for PHS and provide the evidence of a human disorder related to class I basic helix-loop-helix transcription-factor defects.

Author: Carter, Nigel P., Munnich, Arnold, Lyonnet, Stanislas, Amiel, Jeanne, Redon, Richard, Boddaert, Nathalie, Rio, Marlene, Malan, Valerie, Plouin, Perrine, Colleaux, Laurence
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
United States, Analysis, Risk factors, Mental illness, Mental disorders, Genetic transcription, Transcription (Genetics)

User Contributions:

Comment about this article or add new information about this topic:

CAPTCHA


Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

Article Abstract:

Mutations of SURF-1 in Leigh disease (subacute necrotizing encephalomyelopathy) linked to cytochrome c oxidase (COX) deficiency are discussed. Eleven patients in nine families were studied with mutation analysis of candidate genes which included SURF-1, the yeast homologue of which codes for a mitochondrial protein required for maintenance of COX respiration and activity.

Author: Rocchi, Mariano, Zeviani, Massimo, Franco, Brunella, Meitinger, Thomas, Gasparini, Paolo, Tiranti, Valeria, Bertini, Enrico, Dionisi-Vici, Carlo, Hoertnagel, Konstanze, Carrozzo, Rosalba, Galimberti, Claudia, Munaro, Monica, Granatiero, Matteo, Zelante, Leopoldo, Marzella, Rosalia, Bayona-Bafaluy, M. Pilar, Enriquez, Jose-Antonio, Uziel, Graziella
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1998
Italy, Germany, Spain, Health aspects, Usage, Physiological aspects, Genetic disorders, Cytochrome oxidase

User Contributions:

Comment about this article or add new information about this topic:

CAPTCHA


Subjects list: Research, Genetic aspects, Mitochondrial DNA, Encephalopathy, Gene mutations, Gene mutation, Chromosome mapping
Similar abstracts:
  • Abstracts: Normal levels of wild-type mitochondrial DNA maintain cytochrome c oxidase activity for two pathogenic mitochondrial DNA mutations but not for m.3243A->G
  • Abstracts: FGF is essential for both condensation and mesenchymal-epithelial transition stages of pronephric kidney tubule development
  • Abstracts: Activin and its receptors during gastrulation and the later phases of mesoderm development in the chick embryo
  • Abstracts: Gene flow and introgression within and among three species of rockfishes, Sebastes auriculatus, S. caurinus, and S. maliger
  • Abstracts: Evidence for the ubiquity of mixotrophic bacteria in the upper ocean: Implications and consequences. Comparison of primer sets for use in automated ribosomal intergenic spacer analysis of aquatic bacterial communities: An ecological perspective
This website is not affiliated with document authors or copyright owners. This page is provided for informational purposes only. Unintentional errors are possible.
Some parts © 2023 Advameg, Inc.