Abstracts - faqs.org

Abstracts

Biological sciences

Search abstracts:
Abstracts » Biological sciences

Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit

Article Abstract:

A pathological mutation has been reported for the first time in a nuclear complex I gene of the mitochondrial respiratory chain. Twenty complex I-deficient patients with multisystem disorders have been studied. For the human nuclear gene that encodes with 18-kD (AQDQ) subnuit of the mitochondrial respiratory chain complex I, an identified mutation, cDNA cloning, chromosomal localization have been reported. The gene of the cDNA has been mapped to chromosome 5. A homozygous 5-bp duplication was found in a complex I-deficient child with parents heterozygous for the mutation. The duplication was in the 18-kD cDNA and destroys a consensus phosphorylation site. The patient had normal muscle morphology and a surprisingly nonspecific fatal progressive phenotype and no increased lactate concentrations in body fluids. In 19 patients who were complex I-deficient, mutations were not found in the 18-kD gene.

Author: Elpeleg, Orly, Ruitenbeek, Wim, Heuvel, Lambert van den, Smeets, Roel, Gelman-Kohan, Zully, Loeffen, Jan, Trijbels, Frans, Mariman, Edwin, Bruijn, Diederik de, Smeitink, Jan
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1998
Israel, Observations, Cellular signal transduction, Metabolic diseases

User Contributions:

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

CAPTCHA


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

Article Abstract:

The first molecular genetic link of a nuclear-encoded subunit of nicotinamide adenine dinucleotide (NADH):ubiquinone oxidoreductase, complex I of five multiprotein complexes that make up the oxidative phosphorylation system in mammals, for a patient with Leigh syndrome (subacute necrotizing encephalomyelopathy) is discussed. Cycle sequencing of amplified NDUFS8 (TYKY), a subunit of complex I, cDNA was undertaken with 20 patients with isolated enzymatic complex I deficiency, and in one patient with Leigh syndrome two new compound heterozygous transition mutations were seen.

Author: Hamel, Ben, Heuvel, Lambert van den, Smeets, Roel, Loeffen, Jan, Trijbels, Frans, Smeitink, Jan, Triepels, Ralf, Schulke, Markus, Sengers, Rob, Mullaart, Renier
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1998
Physiological aspects, Phosphorylation, NAD (Coenzyme), Nicotinamide adenine dinucleotide

User Contributions:

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

CAPTCHA


Getting to the nucleus of mitochrondrial disorders: identification of respiratory chain-enzyme genes causing Leigh syndrome

Article Abstract:

Mitochondrial disorders and the identification of respiratory chain-enzyme genes responsible for Leigh syndrome (subacute necrotizing encephalomyelopathy) or Leigh-like syndrome, which might be called mitochondrial encephalopathy, are discussed. Mutations in mtDNA that bring on Leigh syndrome are known and work on pathways that lead to successful import/assembly/function of respiratory chain enzymes can be undertaken using some proposed elegant ways of identifying nuclear-encoded mitochondrial genes.

Author: Dahl, Hans-Herik M.
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1998
Australia, Editorial, Abnormalities, Mitochondria, Adenosine triphosphate, ATP, Cytochrome oxidase

User Contributions:

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

CAPTCHA


Subjects list: Netherlands, Genetic aspects, Mitochondrial DNA, Health aspects, Research, Gene mutations, Gene mutation, Nervous system, Dehydrogenases, Oxidoreductases, Genetic disorders, Nerve degeneration, Encephalopathy
Similar abstracts:
  • Abstracts: Constraints on intron evolution in the gene encoding the myosin alkali light chain in Drosophila. P-element-induced variation in metabolic regulation in Drosophila
  • Abstracts: Identification of PEX10 (ital), the gene defective in complementation group 7 of the peroxisome-biogenesis disorders
  • Abstracts: Polymorphic X-chromosome inactivation of the human TIMP1(ital) gene. NTBC and alkaptonuria
  • Abstracts: Mapping of a familial Moyamoya disease gene to chromosome 3p24.2-p26. Recurrence of Marfan syndrome as a result of parental germ-line mosaicism for an FBN1 mutation
  • Abstracts: A sibship test for linkage in the presence of association: the sib transmission/disequilibrium test
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 © 2025 Advameg, Inc.