A Caucasian Family with the 3271 Mutation in Mitochondrial DNA

Marie, Suely Kazue Nagahashi; Goto, Yoshihisa; Passos‐Bueno, Maria Rita; Zatz, Mayana; Carvalho, A A S; Carvalho, Mary S.; Levy, Joanne E.; Palou, V S E B; Campiotto, S; Horai, Satoshi; Nonaka, I.

doi:10.1006/bmmb.1994.1045

Cited by 25 publications

(25 citation statements)

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“…Increased lactate levels in the serum, and particularly in the CSF, are important for the diagnosis of MELAS, because it may indicate mitochondrial dysfunction in almost all cases 4,9,16,17 . The serum lactic acidosis correlates with the severity of neurological impairment, and CSF lactate level may be particularly elevated during the strokelike episodes 16,17 .…”

Section: Fig 2 Muscle Biopsy: [A] Ragged-red Fibers On Modified Gomomentioning

confidence: 99%

“…On cerebral MRI the acute stroke-like lesions start from a focal temporal lesion that, in one-third of the patients, moves to the surrounding parietal or occipital areas 20 . Furthermore, some brain imaging studies reveal predominance of stroke-like lesions in one or both occipital lobes, but the reason for this tendency is unclear 9,21 . A T1-weighted hyperintense cortical signal on MRI compatible with cortical laminar necrosis can be seen during the subacute stage of stroke-like lesions 20 .…”

Section: Fig 2 Muscle Biopsy: [A] Ragged-red Fibers On Modified Gomomentioning

confidence: 99%

“…Later calcification may be seen in the basal ganglia and diffuse cerebral or cerebellar atrophy can occur 3,4,16,21 . The spreading mechanisms of stroke-like lesions also remain unknown, but may be due to vascular abnormalities resulting from mitochondrial angiopathy or a metabolic disorder caused by mitochondrial dysfunction-induced energy failure 5,7,9,14,16,21 . The RRF is the histological hallmark of proliferation of abnormal mitochondria in muscle fibers 1,22,23 .…”

Section: Fig 2 Muscle Biopsy: [A] Ragged-red Fibers On Modified Gomomentioning

confidence: 99%

“…The COX activity can be diffusely decreased or focally absent in some muscle fibers, but in these cases the COX probably is not the primary defective site of disease 9,15,22 . Thus, most of the MELAS patients have normal or increased COX activity, as in this study, possibly because the mtDNA mutation is insufficient to impair COX activity 22,25 .…”

Section: Fig 2 Muscle Biopsy: [A] Ragged-red Fibers On Modified Gomomentioning

confidence: 99%

“…Since its first description, few patients with this disease have been identified in Brazil [8][9][10] . In this study we analyze the clinical and laboratory manifestations, brain images, histological and molecular findings in 10 Brazilian patients suffering from MELAS.…”

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23. MELAS: Clinical features, muscle biopsy and molecular genetics

Lorenzoni

Arndt

Freund

et al. 2009

Clinical Neurophysiology

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-Objective: The aim of the study was to analyze a series of Brazilian patients suffering from MELAS. Method: Ten patients with MELAS were studied with correlation between clinical findings, laboratorial data, electrophysiology, histochemical and molecular features. Results: Blood lactate was increased in eight patients. Brain image studies revealed a stroke-like pattern in all patients. Muscle biopsy showed ralled-red fibers (RRF) in 90% of patients on modified Gomori-trichrome and in 100% on succinate dehydrogenase stains. Cytochrome c oxidase stain analysis indicated deficient activity in one patient and subsarcolemmal accumulation in seven patients. Strongly succinate dehydrogenase-reactive blood vessels (SSV) occurred in six patients. The molecular analysis of tRNA Leu(UUR) gene by PCR/RLFP and direct sequencing showed the A3243G mutation on mtDNA in 4 patients. Conclusion: The muscle biopsy often confirmed the MELAS diagnosis by presence of RRF and SSV.

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Section: Fig 2 Muscle Biopsy: [A] Ragged-red Fibers On Modified Gomomentioning

confidence: 99%

Section: Fig 2 Muscle Biopsy: [A] Ragged-red Fibers On Modified Gomomentioning

confidence: 99%

Section: Fig 2 Muscle Biopsy: [A] Ragged-red Fibers On Modified Gomomentioning

confidence: 99%

Section: Fig 2 Muscle Biopsy: [A] Ragged-red Fibers On Modified Gomomentioning

confidence: 99%

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confidence: 99%

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23. MELAS: Clinical features, muscle biopsy and molecular genetics

Lorenzoni

Arndt

Freund

et al. 2009

Clinical Neurophysiology

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Clinical, physiological, and histological features in a kindred with the T3271C MELAS mutation

et al. 1998

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Clinical features of melas and mitochondrial DNA mutations

Goto

1995

Muscle Nerve

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MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike episodes) is a distinct disorder characterized clinically by repeated strokelike attacks mostly beginning in childhood. We have paid special attention to the blood vessel abnormality seen in most biopsied muscle, in terms of the strokelike episodes in MELAS. The 3243 mutation in 80% of the typical MELAS patients has also been found in patients differing from the MELAS phenotype. Because we have examined muscle biopsies in 94 MELAS or 3243-positive patients, it is worthwhile to summarize the clinical and pathological findings and to prove the discrepancy between phenotype and genotype. This may be a starting point for further discussion of the pathomechanism and so toward further understanding of the disease itself.

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A Caucasian Family with the 3271 Mutation in Mitochondrial DNA

Cited by 25 publications

References 0 publications

23. MELAS: Clinical features, muscle biopsy and molecular genetics

23. MELAS: Clinical features, muscle biopsy and molecular genetics

Clinical, physiological, and histological features in a kindred with the T3271C MELAS mutation

Clinical features of melas and mitochondrial DNA mutations

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