1993
DOI: 10.1007/bf00714284
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Clinical and biochemical phenotype of the MELAS mutation

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Cited by 3 publications
(5 citation statements)
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“…The most common mtDNA mutation associated with MELAS is an A to G substitution at position 3243 in the MTTL1 tRNA Leucine (UUR) gene. The presence of this mutation creates a new recognition site for the restriction enzyme Apa I [Miyabayashi et al, 1993]. The digestion pattern with this enzyme of the 426 bp PCR products from the patient and control individuals, is shown in Figure 3.…”
Section: Resultsmentioning
confidence: 99%
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“…The most common mtDNA mutation associated with MELAS is an A to G substitution at position 3243 in the MTTL1 tRNA Leucine (UUR) gene. The presence of this mutation creates a new recognition site for the restriction enzyme Apa I [Miyabayashi et al, 1993]. The digestion pattern with this enzyme of the 426 bp PCR products from the patient and control individuals, is shown in Figure 3.…”
Section: Resultsmentioning
confidence: 99%
“…A 426‐bp fragment of mtDNA containing the 3243 (A→G) mutation was amplified by polymerase chain reaction (PCR) using the oligonucleotide primers MTP1 (nt 3131–3149) and MTP2 (nt 3536–3555) [Miyabayashi et al, 1993; Degoul et al, 1995]. The PCR reaction consisted of 35 cycles in a total volume of 50 μl using 100 ng of DNA, each cycle consisting of 90°C for 60 sec, annealing at 55°C for 60 sec and primer extension at 70°C for 60 sec.…”
Section: Methodsmentioning
confidence: 99%
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“…Among the abnormalities most commonly found in infants of diabetic mothers are neural tube defects, holoprosencephaly, congenital heart defects, caudal dysgenesis sequence, situs inversus, skeletal anomalies, and urogenital anomalies [Goto and Goldman, 19941. The caudal dys-The importance of the role of hyperglycemia in the pathogenesis of diabetic embryopathy has been debated [Garner, 19951 but is best illustrated by the substantial decrease in the incidence of serious congenital abnormalities among offspring of mothers with IDDM who had tight control of blood glucose levels early in pregnancy [Steel et al, 19901. The A3243G mitochondrial mutation is known to interfere with oxidative phosphorylation and cause reduced activity of Complex I and IV of the mitochondrial respiratory chain [Miyabayashi et al, 1993;Kobayashi et al, 1986;Campos et al, 19941. Thus, this mutation could lead to an increased production of free-oxygen radicals which could further increase the risk of the congenital abnormalities in cases where the maternal diabetes is related to the mitochondrial DNA mutation.…”
Section: Discussionmentioning
confidence: 98%
“…The clinical presentation of the "classical" mitochondrial syndromes such as MELAS, MERRF (myoclonus epilepsy and ragged red fibres), and Kearns Sayre syndrome can overlap widely and often the specific diagnosis can only be confirmed on mtDNA analysis. This A3243G mitochondrial mutation affects the tRNA formation and transcription termination [Kobayashi et al, 19911 and results in deficient activities of Complex I and, to a lesser extent, Complex IV of the respiratory chain [Miyabayashi et al, 1993;Kobayashi et al, 1986;Campos et al, 19941.…”
Section: Introductionmentioning
confidence: 99%