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Titolo:
Late-onset mitochondrial DNA depletion: DNA copy number, multiple deletions, and compensation
Autore:
Barthelemy, C; de Baulny, HO; Diaz, J; Cheval, MA; Frachon, P; Romero, N; Goutieres, F; Fardeau, M; Lombes, A;
Indirizzi:
Hop La Pitie Salpetriere, Inst Myol, INSERM, UR 523, F-75651 Paris 13, France Hop La Pitie Salpetriere Paris France 13 R 523, F-75651 Paris 13, France Hop Robert Debre, Paris, France Hop Robert Debre Paris FranceHop Robert Debre, Paris, France Fac Pharm, Paris, France Fac Pharm Paris FranceFac Pharm, Paris, France Hop La Pitie Salpetriere, Paris, France Hop La Pitie Salpetriere Paris France Pitie Salpetriere, Paris, France Hop Necker Enfants Malad, Paris, France Hop Necker Enfants Malad Paris France cker Enfants Malad, Paris, France
Titolo Testata:
ANNALS OF NEUROLOGY
fascicolo: 5, volume: 49, anno: 2001,
pagine: 607 - 617
SICI:
0364-5134(200105)49:5<607:LMDDDC>2.0.ZU;2-L
Fonte:
ISI
Lingua:
ENG
Soggetto:
KEARNS-SAYRE SYNDROME; C-OXIDASE DEFICIENCY; MTDNA DEPLETION; SKELETAL-MUSCLE; LACTIC-ACIDOSIS; LIVER-FAILURE; MYOPATHY; PATIENT; CHILDREN; OPHTHALMOPLEGIA;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
41
Recensione:
Indirizzi per estratti:
Indirizzo: Lombes, A Hop La Pitie Salpetriere, Inst Myol, INSERM, UR 523, F-75651 Paris 13, France Hop La Pitie Salpetriere Paris France 13 5651 Paris 13, France
Citazione:
C. Barthelemy et al., "Late-onset mitochondrial DNA depletion: DNA copy number, multiple deletions, and compensation", ANN NEUROL, 49(5), 2001, pp. 607-617

Abstract

Through a report of 4 late-onset cases with mitochondrial DNA (mtDNA) depletion, we address the specificity of the clinical entities associated with a very low residual amount of mtDNA Three of the patients met the diagnostic criteria of Kearns Sayre syndrome, which has never been associated with mtDNA depletion. The fourth patient had an isolated skeletal myopathy. Deleted mtDNA molecules were found by long-range polymerase chain reaction (PCR)only in the Kearns Sayre syndromes, which strengthens the clinical differences between the two types of patients. Ad patients had extremely low residual amounts of mtDNA as shown by Southern blot analysis. Using an original method based on competitive PCR, we were able to measure the number of mtDNA copies per diploid genome. These results demonstrated the severity of thedepletion in the patients by comparison not only to normal controls but also to patients with mtDNA disorders. Despite the severity of the depletion,in situ hybridization using two mtDNA transcripts revealed a normal steady-state level of transcription. Such compensation provides clues to the striking contrast between the severity of mtDNA depletion and the late onset and slowly progressive disease.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 19/01/20 alle ore 20:41:48