Muscle & nerve. Supplement最新文献_第10页

Fish mapping of 250 cosmid and 26 YAC clones to chromosome 4 with special emphasis on the FSHD region at 4q35. 将250个cosmid和26个YAC克隆定位到4号染色体上，特别强调了4q35的FSHD区域。

Muscle & nerve. Supplement Pub Date : 1995-01-01

C Wijmenga, H G Dauwerse, G W Padberg, N Meyer, J C Murray, K Mills, G B van Ommen, M H Hofker, R R Frants

引用次数: 0

Phenotype-genotype correlations in skeletal muscle of patients with mtDNA deletions. mtDNA缺失患者骨骼肌的表型-基因型相关性。

Muscle & nerve. Supplement Pub Date : 1995-01-01 DOI: 10.1002/mus.880181429

C T Moraes, M Sciacco, E Ricci, C H Tengan, H Hao, E Bonilla, E A Schon, S DiMauro

{"title":"Phenotype-genotype correlations in skeletal muscle of patients with mtDNA deletions.","authors":"C T Moraes, M Sciacco, E Ricci, C H Tengan, H Hao, E Bonilla, E A Schon, S DiMauro","doi":"10.1002/mus.880181429","DOIUrl":"https://doi.org/10.1002/mus.880181429","url":null,"abstract":"Large-scale deletions of mitochondrial DNA (mtDNA) have been associated with a subgroup of mitochondrial encephalomyopathies, usually characterized by progressive external ophthalmoplegia (PEO) and mitochondrial proliferation in muscle fibers. We and others have shown that muscle from patients with mtDNA deletions have variable cytochrome c oxidase (COX) deficiency and reduction of mitochondrially-synthesized polypeptides in affected muscle fibers. The present work summarizes the phenotype-genotype correlations observed in patients' muscle. In situ hybridization revealed that, while most COX-deficient fibers had increased levels of mutant mtDNA, they almost invariably had reduced levels of normal mtDNA. PCR quantitation of both deleted and wild-type mtDNAs in normal and respiration-deficient muscle fibers from patients with the \"common deletion\" showed that deleted mtDNAs were present in normal fibers (31 +/- 26%), but their percentages were much higher in affected fibers (95% +/- 2%). Absolute levels of deleted mtDNA were also increased in affected fibers, whereas absolute levels of wild-type mtDNA were significantly reduced. Taken together, our results suggest that although a specific ratio between mutant and wild-type mitochondrial genomes is probably the major determinant of the respiratory chain deficiency associated with mtDNA deletions, the reduction in the absolute amounts of wild-type mtDNA may also play a significant pathogenetic role.","PeriodicalId":79355,"journal":{"name":"Muscle & nerve. Supplement","volume":"3 ","pages":"S150-3"},"PeriodicalIF":0.0,"publicationDate":"1995-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/mus.880181429","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"18608056","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 38

Genetic defects in patients with glycogenosis type II (acid maltase deficiency). II型糖原病(酸性麦芽糖酶缺乏症)患者的遗传缺陷。

Muscle & nerve. Supplement Pub Date : 1995-01-01 DOI: 10.1002/mus.880181415

N Raben, R C Nichols, C Boerkoel, P Plotz

引用次数: 41

Heteroplasmic mitochondrial tRNA(Lys) mutation and its complementation in MERRF patient-derived mitochondrial transformants. 线粒体tRNA(Lys)异质突变及其在MERRF患者来源的线粒体转化子中的互补。

Muscle & nerve. Supplement Pub Date : 1995-01-01 DOI: 10.1002/mus.880181420

M Yoneda, T Miyatake, G Attardi

引用次数: 19

Mitochondrial DNA mutations in cardiomyopathy: combination of replacements yielding cysteine residues and tRNA mutations. 心肌病的线粒体DNA突变:产生半胱氨酸残基和tRNA突变的替代组合。

Muscle & nerve. Supplement Pub Date : 1995-01-01 DOI: 10.1002/mus.880181432

M Tanaka, T Obayashi, M Yoneda, S A Kovalenko, S Sugiyama, T Ozawa

引用次数: 6

OXPHOS defects and mitochondrial DNA mutations in cardiomyopathy. 心肌病中OXPHOS缺陷和线粒体DNA突变。

Muscle & nerve. Supplement Pub Date : 1995-01-01 DOI: 10.1002/mus.880181433

M Zeviani, C Mariotti, C Antozzi, G M Fratta, P Rustin, A Prelle

{"title":"OXPHOS defects and mitochondrial DNA mutations in cardiomyopathy.","authors":"M Zeviani, C Mariotti, C Antozzi, G M Fratta, P Rustin, A Prelle","doi":"10.1002/mus.880181433","DOIUrl":"https://doi.org/10.1002/mus.880181433","url":null,"abstract":"Defects of the mitochondrial respiratory chain in cardiac muscle are an important, yet still overlooked cause of heart failure. In 16 of 32 endocardial biopsies from infants affected by \"idiopathic\" hypertrophic cardiomyopathy we demonstrated a remarkable decrease of activity of either complex I, or complex IV, or both, relative to complex II + III activity which was taken as an index of mitochondrial proliferation. At the molecular level, several mtDNA mutations have been associated with cardiomyopathy. For instance, MIMyCa is a maternally inherited syndrome presenting with a variable combination of skeletal and heart muscle failure associated with a heteroplasmic A3260G transition in the tRNALeu(UUR) gene. To study the effects of the mutation in a controlled system, we prepared clones of transmitochondrial cybrids by fusing mutant cytoplasts with mtDNA-less tumor cells. Two groups of clones were identified: nearly 100% mutant (M group) and nearly 100% wild-type (WT group). The means of complex I and IV in the M group were 63% and 67% relative to the WT group. The O2 consumption in the M group was 36%, and the lactate production was 218% of that in the WT group. MtDNA-specific translation was defective in M clones. The study of transmitochondrial cybrids is an important clue to test the pathogenicity of mtDNA mutations.","PeriodicalId":79355,"journal":{"name":"Muscle & nerve. Supplement","volume":"3 ","pages":"S170-4"},"PeriodicalIF":0.0,"publicationDate":"1995-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/mus.880181433","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"18609443","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 40

Glycolytic defects in muscle: aspects of collaboration between basic science and clinical medicine. 肌肉中的糖酵解缺陷:基础科学与临床医学的合作。

Muscle & nerve. Supplement Pub Date : 1995-01-01 DOI: 10.1002/mus.880181404

S Tarui

{"title":"Glycolytic defects in muscle: aspects of collaboration between basic science and clinical medicine.","authors":"S Tarui","doi":"10.1002/mus.880181404","DOIUrl":"https://doi.org/10.1002/mus.880181404","url":null,"abstract":"The molecular heterogeneities of enzyme abnormality have been identified successively since 1990 for major clinical entities of glycogenolytic and glycolytic defects in skeletal muscle. The interchange between clinical medicine and basic science, which enabled these achievements, has a long history. This review introduces several important examples of this interchange, which has borne much fruit in the comprehensive understanding of glycogenolysis–glycolysis in skeletal muscle and the related defects that cause various metabolic diseases. For instance, the presence of “glycogen synthase” was mainly suggested by the pathophysiology of McArdle's disease. Clinical manifestations of muscle phosphofructokinase (PFK) deficiency have indicated that there could be PFK isozymes under separate genetic control. Although glycolysis is a unidirectional pathway, enzyme defects at each step do not necessarily cause similar manifestations. Glycogen accumulation is mostly associated with enzyme defects in glycogenolysis and in the first stage of glycolysis. Since the original report of phosphoglycerate mutase deficiency in 1981, no newly recognized glycolytic defects have been presented. Glycolytic steps for which no enzyme deficiency has been identified seem to provide another important impetus for further study of “fail‐safe” mechanisms in regard to monogenic disorders. © 1995 John Wiley & Sons, Inc.","PeriodicalId":79355,"journal":{"name":"Muscle & nerve. Supplement","volume":"3 ","pages":"S2-9"},"PeriodicalIF":0.0,"publicationDate":"1995-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/mus.880181404","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"18609445","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 14

The molecular genetic basis of myophosphorylase deficiency (McArdle's disease). 肌磷酸化酶缺乏症(mccardle病)的分子遗传学基础。

Muscle & nerve. Supplement Pub Date : 1995-01-01 DOI: 10.1002/mus.880181407

S Tsujino, S Shanske, I Nonaka, S DiMauro

{"title":"The molecular genetic basis of myophosphorylase deficiency (McArdle's disease).","authors":"S Tsujino, S Shanske, I Nonaka, S DiMauro","doi":"10.1002/mus.880181407","DOIUrl":"https://doi.org/10.1002/mus.880181407","url":null,"abstract":"Glycogen phosphorylase catalyzes the first step of glycogen catabolism. Hereditary defects of muscle phosphorylase lead to a myopathy characterized by exercise intolerance, cramps, and myoglobinuria (McArdle's disease). We have identified ten mutations in the myophosphorylase gene in patients with McArdle's disease. Relatively common mutations include: a nonsense mutation, CGA(Arg) to TGA at codon 49, observed in 30 of 40 American patients; deletion of a single codon 708/709, observed in 4 of 7 Japanese patients; and a missense mutation, GGC(Gly) to AGC(Ser) at codon 204, observed in 5 of 40 American patients. Apparently rare mutations include: a splice-junction mutation, G to A, at the first nt of intron 14; a deletion of G at codon 510; a mutation, ATG to CTG, in the translation initiation codon; and missense mutations, AAG(Lys) to ACG(Thr) at codon 542, CTG(Leu) to CCG(Pro) at codon 396, CTG(Leu) to CCG(Pro) at codon 291, and GAG(Glu) to AAG(Lys) at codon 654. As most mutations can be screened for using genomic DNA, patients can now be diagnosed reliably using peripheral blood cells, thus avoiding muscle biopsy. Although these findings define the wide spectrum of genetic lesions causing McArdle's disease, the clinical heterogeneity of this disorder remains to be explained.","PeriodicalId":79355,"journal":{"name":"Muscle & nerve. Supplement","volume":"3 ","pages":"S23-7"},"PeriodicalIF":0.0,"publicationDate":"1995-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/mus.880181407","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"18609446","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 49

The FSHD-linked locus D4F104S1 (p13E-11) on 4q35 has a homologue on 10qter. fshd连锁位点在4q35上的D4F104S1 (p13E-11)在10qter上有同源物。

Muscle & nerve. Supplement Pub Date : 1995-01-01

E Bakker, C Wijmenga, R H Vossen, G W Padberg, J Hewitt, M van der Wielen, K Rasmussen, R R Frants

引用次数: 0

Efforts toward understanding the molecular basis of facioscapulohumeral muscular dystrophy. 努力了解面肩肱肌营养不良的分子基础。

Muscle & nerve. Supplement Pub Date : 1995-01-01

M R Altherr, U Bengtsson, R P Markovich, S T Winokur

引用次数: 0