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Titolo:
CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA - A CORRELATIVE STUDY OFQUANTITATIVE MOLECULAR-DATA AND HISTOCHEMICAL AND BIOCHEMICAL PROFILE
Autore:
FASSATI A; BORDONI A; AMBONI P; FORTUNATO F; FAGIOLARI G; BRESOLIN N; PRELLE A; COMI G; SCARLATO G;
Indirizzi:
UNITED MED & DENT SCH GUYS & ST THOMAS HOSP,GUYS HOSP,DEPT EXPTL PATHOL LONDON SE1 9RT ENGLAND UNIV MILAN,IST CLIN NEUROL I-20122 MILAN ITALY
Titolo Testata:
Journal of the neurological sciences
fascicolo: 1-2, volume: 123, anno: 1994,
pagine: 140 - 146
SICI:
0022-510X(1994)123:1-2<140:CPEO-A>2.0.ZU;2-H
Fonte:
ISI
Lingua:
ENG
Soggetto:
KEARNS-SAYRE SYNDROME; MITOCHONDRIAL-DNA DELETIONS; PERIPHERAL ARTERIAL INSUFFICIENCY; C OXIDASE DEFICIENCY; SKELETAL-MUSCLE; PHENOTYPIC-EXPRESSION; GENOMES; FIBERS; SEQUENCE; BIOPSIES;
Keywords:
OPHTHALMOPLEGIA; KEARNS-SAYRE SYNDROME; NEUROMUSCULAR DISEASE; MTDNA; CYTOCHROME C OXIDASE DEFICIENCY; PCR; SKELETAL MUSCLE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
40
Recensione:
Indirizzi per estratti:
Citazione:
A. Fassati et al., "CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA - A CORRELATIVE STUDY OFQUANTITATIVE MOLECULAR-DATA AND HISTOCHEMICAL AND BIOCHEMICAL PROFILE", Journal of the neurological sciences, 123(1-2), 1994, pp. 140-146

Abstract

We studied muscle biopsies of 5 patients with Kearns-Sayre syndrome and 3 patients with chronic progressive external ophthalmoplegia all with the common deletion. Steady state levels of normal and deleted mitochondrial DNA (mtDNA) measured in each patient by quantitative PCR were correlated with histochemical and biochemical features. We found that (1) normal mtDNA levels were higher in many patients than in controls; (2) as levels of deleted mtDNA increased, so did levels of normal mtDNA; (3) cytochrome c oxidase (COX) activity and the percentage of COX negative fibers were both related to the levels of deleted mtDNA; and (4) as percentage of ragged red fibers increased, so did levels of total, deleted and normal mtDNA. The quantity of deleted mtDNA plays a key role in determining the severity of COX deficiency, which is responsible for the overaccumulation of mitochondria in muscle.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 19/09/20 alle ore 11:38:09