ライフサイエンスコーパス: MELAS

1 MELAS is a multisystem encephalomyopathy disorder that c

2 MELAS syndrome (mitochondrial myopathy, encephalopathy,

3 S phenotype, 30% had MIDD, 6% MELAS/MIDD, 2% MELAS/chronic PEO (CPEO) and 5% MIDD/CPEO overlap syndro

4 classical MELAS phenotype, 30% had MIDD, 6% MELAS/MIDD, 2% MELAS/chronic PEO (CPEO) and 5% MIDD/CPEO

5 genesis of MELAS, we analyzed tissues from 8 MELAS-3,243 patients.

6 dings establish that defective MRM2 causes a MELAS-like phenotype, and suggests the genetic screening

7 ls were repopulated with mitochondria from a MELAS patient harbouring a mixture of 3243G:C and 3243A:

8 ic acidosis and stroke-like episodes (A3243G MELAS) or the myoclonic epilepsy with ragged-red fibres

9 that the protein synthesis defect in A3243G MELAS mutation-carrying cells is mainly due to a reduced

10 equency of affected offspring for the A3243G MELAS mutation than for the A8344G MERRF mutation.

11 unfolding events as a function of Mg(2+) and MELAS-associated mutations.

12 diagnosis, primarily to distinguish between MELAS and ischemic stroke.

13 Both MELAS and MIDD patients can present with visual symptoms

14 10% of patients exhibited a classical MELAS phenotype, 30% had MIDD, 6% MELAS/MIDD, 2% MELAS/c

15 ession of MNRR1 on the mitochondrial disease MELAS (mitochondrial encephalomyopathy, lactic acidosis

16 y, lactic acidosis, and stroke-like episode (MELAS)-associated mt-tRNA leucine (Leu, UUR) (mt-tRNA(Le

17 , lactic acidosis, and stroke-like episodes (MELAS) A3243G mitochondrial DNA (mtDNA) mutation and the

18 th lactic acidosis and stroke-like episodes (MELAS) and myoclonus epilepsy with ragged-red fibers (ME

19 d lactic acidosis with stroke-like episodes (MELAS) and Parkinson's disease.

20 th lactic acidosis and stroke-like episodes (MELAS) phenotype.

21 , lactic acidosis, and stroke-like episodes (MELAS) syndrome has been investigated in transmitochondr

22 y, lactic acidosis and stroke-like episodes (MELAS) syndrome, however, the common m.3243 A > G mutati

23 , lactic acidosis with stroke-like episodes (MELAS) syndrome, the low mtDNA heteroplasmy causes mater

24 , lactic acidosis, and stroke-like episodes (MELAS) syndrome.

25 , lactic acidosis, and stroke-like episodes (MELAS), a maternally inherited disorder, is usually asso

26 encephalomyopathy and stroke-like episodes (MELAS), and 8993T>G and 13513G>A, implicated in Leigh sy

27 y, lactic acidosis and stroke-like episodes (MELAS), dermatomyositis (DM) and polymyositis (PM) using

28 hy lactic acidosis and stroke-like episodes (MELAS), maternally inherited deafness and diabetes (MIDD

29 hy lactic acidosis and stroke-like episodes (MELAS).

30 y, lactic acidosis and stroke-like episodes (MELAS); the tRNA(Lys) 8344 mutation causing myoclonic ep

31 y, lactic acidosis, and strokelike episodes (MELAS).

32 y, lactic acidosis, and strokelike episodes (MELAS).

33 atic measurements of muscle homogenates from MELAS patients with the 3243G:C mutation.

34 in stimulating UPR(mt), which is blunted in MELAS cells, was surprising and further investigation un

35 nding of the cause of strokelike episodes in MELAS and present recommendations to assist in the ident

36 iologic mechanisms of strokelike episodes in MELAS have led to improved treatment options.

37 vely modifies RC deficiency manifestation in MELAS and that autophagy is a significant component of n

38 tabolism may have pathogenic significance in MELAS.

39 mitochondrial encephalomyopathies, including MELAS, and proposes a mechanism by which patients suffer

40 Isogenic MELAS and Leigh syndrome iPS cell lines were generated c

41 to be pathogenic, that it can cause an LHON/MELAS overlap syndrome, and that it may be a more freque

42 complexity of its clinical presentation make MELAS patients among the most difficult to diagnose.

43 ene in patients with a m.3243 A > G negative MELAS-like presentation.

44 phagy is a significant component of neuronal MELAS pathogenesis.

45 and that it may be a more frequent cause of MELAS than previously recognized.

46 ribe characteristic radiological features of MELAS syndrome in CT, MRI and MR spectroscopy of the bra

47 To further study the pathogenesis of MELAS, we analyzed tissues from 8 MELAS-3,243 patients.

48 rl with clinical and radiological picture of MELAS syndrome.

49 encephalopathy, lactic acidosis, and stroke (MELAS), neuropathy, ataxia, retinitis pigmentosa-materna

50 , lactic acidosis, and stroke-like symptoms (MELAS) and 2% of cases of type 2 diabetes.

51 acidosis and stroke-like episodes syndrome (MELAS).

52 nding the molecular mechanism underlying the MELAS-associated mitochondrial dysfunction.

53 ying the A3243G mutation associated with the MELAS (Mitochondrial Myopathy, Encephalopathy with Lacti

54 the tRNA(Leu(UUR)) gene associated with the MELAS encephalomyopathy.

55 re, the case of a patient diagnosed with the MELAS syndrome who subsequently developed acute renal fa

56 n was found in muscle from patients with the MELAS, myoclonic epilepsy with ragged red fibers, and ch

57 Similar to MELAS patient tissues, complex I defect predominated.

58 itochondria from three genetically unrelated MELAS patients or of isogenic wild-type mtDNA-carrying o

59 mitochondrial DNA (mtDNA) is associated with MELAS (mitochondrial encephalomyopathy with lactic acido

60 abilizing effect on variants associated with MELAS (mitochondrial myopathy, encephalopathy, lactic ac

61 of nitric oxide precursors in patients with MELAS ameliorates the clinical symptoms associated with

62 metabolites) that distinguish patients with MELAS from controls.

63 dentification and treatment of patients with MELAS who present with stroke are presented.

64 timing of arginine therapy in patients with MELAS, urgent administration of nitric oxide precursors

65 uce the severity of strokes in patients with MELAS.