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Titolo:
Absence of maternal A3243G mtDNA mutation and reversible hyperglycemia in a patient with MELAS syndrome
Autore:
Liou, CW; Huang, CC; Tsai, JL; Liu, JY; Pang, CY; Lee, HC; Wang, EK; Wei, YH;
Indirizzi:
Chang Gung Mem Hosp, Dept Neurol, Kaohsiung, Taiwan Chang Gung Mem Hosp Kaohsiung Taiwan sp, Dept Neurol, Kaohsiung, Taiwan Chang Gung Med Coll, Taipei, Taiwan Chang Gung Med Coll Taipei TaiwanChang Gung Med Coll, Taipei, Taiwan Kaohsiung Med Coll, Grad Inst Occupat Safety & Hlth, Kaohsiung, Taiwan Kaohsiung Med Coll Kaohsiung Taiwan at Safety & Hlth, Kaohsiung, Taiwan Natl Yang Ming Univ, Dept Biochem, Taipei 112, Taiwan Natl Yang Ming UnivTaipei Taiwan 112 , Dept Biochem, Taipei 112, Taiwan Natl Yang Ming Univ, Ctr Cellular & Mol Biol, Taipei 112, Taiwan Natl YangMing Univ Taipei Taiwan 112 lar & Mol Biol, Taipei 112, Taiwan
Titolo Testata:
ACTA NEUROLOGICA SCANDINAVICA
fascicolo: 1, volume: 101, anno: 2000,
pagine: 65 - 69
SICI:
0001-6314(200001)101:1<65:AOMAMM>2.0.ZU;2-U
Fonte:
ISI
Lingua:
ENG
Soggetto:
MITOCHONDRIAL TRNA(LEU(UUR)) GENE; DIABETES-MELLITUS; LACTIC-ACIDOSIS; MITOTIC SEGREGATION; EPISODES MELAS; CHINESE FAMILY; POINT MUTATION; DNA; MYOPATHY; ENCEPHALOPATHY;
Keywords:
MELAS; diabetes mellitus; mitochondrial DNA; spontaneous mutation; environmental stress;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
25
Recensione:
Indirizzi per estratti:
Indirizzo: Liou, CW Chang Gung Mem Hosp, Dept Neurol, 123 Ta Pei Rd, Kaohsiung, Taiwan Chang Gung Mem Hosp 123 Ta Pei Rd Kaohsiung Taiwan iung, Taiwan
Citazione:
C.W. Liou et al., "Absence of maternal A3243G mtDNA mutation and reversible hyperglycemia in a patient with MELAS syndrome", ACT NEUR SC, 101(1), 2000, pp. 65-69

Abstract

We report the unusual features of a female patient who had MELAS-specific A3243G mutation in mitochondrial DNA (mtDNA) and diabetes mellitus (DM). The patient showed mitochondrial myopathy, encephalopathy, lactic acidosis, and deafness but lacked the stroke-like episode. Acute hyperglycemia was noted after one attack of status epilepticus. Molecular genetic analysis demonstrated a heteroplasmic A3243G point mutation in the mtDNAs of muscle, blood cells and hair follicles. Glucagon stimulation test exhibited marked depression of pancreatic beta-cell function. However, in a further study neither this mutation, nor MELAS syndrome or DM, was found in all of her maternalrelatives. A series of follow-up studies for beta-cell function also showed gradual improvement. The pedigree study led us to believe that this A3243G mutation arose from the germ line cells or occurred later in somatic tissues of the patient. We also suggest that the A3243G mutation of mtDNA may elicit the pathogenesis of a subtype of DM. Nevertheless, environmental stress may be another important factor for provocation of the disease.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 12/07/20 alle ore 13:25:09