Erythrocyte deformation in human muscular dystrophy

Erythrocytes from patients with congenital muscular dystrophy exhibit dramatic surface deformation when observed with a scanning electron microscope. A similar alteration, but one affecting a smaller proportion of cells, occurs in the case of female carriers of the sex-linked Duchenne dystrophic condition. These observed changes in the erythrocyte surface may reflect a systemic defect in membrane properties.     

Polymorphism of lactate dehydrogenase in gelada baboons

In a group of 21 gelada baboons, three different lactate dehydrogenase patterns were observed after starch-gel electrophoresis of tissue extracts. The patterns indicate that a mutation has occurred in this population in the gene responsible for the A-subunit. The normal and variant homozygotes each contain five isozymes, those containing the A subunit having characteristically different electrophoretic mobilities. The heterozygote contains the expected 15 isozymes.     

Myotonic muscular dystrophy: abnormalities in fibroblast culture

Skin fibroblasts in culture, derived from four unrelated patients with myotonic muscular dystrophy, contain abnormally large amounts of material with the staining characteristics of acid mucopolysaccharide. These cells also differ from normal cells in their pattern of growth at a high density in culture.     

杨树与溃疡病菌互作中过氧化物酶的细胞化学定位

为了从细胞水平上研究过氧化物酶在杨树与溃疡病菌互作过程中的作用、过氧化物酶在细胞器中的定位与活性变化,以及过氧化物酶在杨树与溃疡病菌互作中的机制,该文以抗性不同的毛白杨(高抗种)和北京杨(高感种)为研究材料接种溃疡病菌葡萄座腔菌,利用DAB细胞化学染色技术研究过氧化物酶在细胞中的分布及活性。通过分析酶活性区域的电子密度发现:无论抗病种还是感病种,接种后均发现细胞中有过氧化物酶活性反应;抗病种过氧化物酶活性不仅明显高于该种未接种的对照,也明显高于接种处理后的感病种,并且定位更广泛,在细胞壁、细胞间隙、叶绿体膜、线粒体膜及质膜上均有大量定位;感病种酶反应产物主要分布于细胞壁上,在质膜、局部核膜上有少量定位,且定位范围及强度均小于抗病种。      

D-lactate specific pyridine nucleotide lactate dehydrogenase in animals

A survey of representative invertebrates has revealed the presence of pyridine nucleotide-linked (D)-lactate dehydrogenase in a number of groups. All species studied contained either D(D)-or (L)L-lactate dehydrogenase, but no species contained both enzymes. The (D)-lactate dehydrogenase from Limulus polyphemus has been purified and has a molecular weight of 65,000.     

Molecular size of hagfish muscle lactate dehydrogenase

In contrast to an earlier report, we find that the primitive vertebrate Eptatretus possesses a muscle lactate dehydrogenase whose molecular size is like that of lactate dehydrogenases from higher vertebrates. The molecular size of lactate dehydrogenase appears to have remained constant during evolution.     

A new probe for the diagnosis of myotonic muscular dystrophy

Myotonic muscular dystrophy (DM) is the most common muscular dystrophy, affecting adults as well as children. It is inherited as an autosomal dominant trait and is characterized by variable expressivity and late age-of-onset. Linkage studies have established the locus on chromosome 19. In order to identify tightly linked probes for diagnosis as well as to define in detail the DM gene region, chromosome 19 libraries were constructed and screened for restriction fragment length polymorphisms tightly linked to DM. A genomic clone, LDR152 (D19S19), was isolated that is tightly linked to DM; recombination fraction = 0.0 (95% confidence limits 0.0-0.03); lod score, 15.4.     

Myotonic muscular dystrophy: altered calcium transport in erythrocytes

Erythrocytes from patients with myotonic muscular dystrophy accumulate calcium at a significantly higher rate than normals do. This increased rate of net accumulation appears related to an enhanced permeability of the membrane to calcium, rather than to an impairment in its active outward transport.     

Genetic control of lactate dehydrogenase formation in the hagfish Eptatretus stoutii

The isozyme patterns of lactate dehydrogenases of various tissues were studied on 51 hagfish by starch-gel electrophoresis. Nine lactate dehydrogenase phenotypes were encountered, suggesting the coexistence of two alleles at each of the two separate gene loci. There apparently was no interaction between the products of these two separate loci. Even the products of two alleles at the same locus were apparently incapable of forming hybrid molecules, an indication of the possible monomeric nature of each lactate dehydrogenase molecule.     

Genetic control of lactate dehydrogenase expression in mammalian tissues

The amount of lactate dehydrogenase isozyme 4 in erythrocytes of mice is controlled by alleles at the Ldr-1 locus. The A subunits of lactate dehydrogenase from erythrocytes deficient in isozyme 4 cannot assemble in vitro with B subunits to form active isozyme. The inability to form hybrid enzyme is not due to a mutation in the structural gene for the A polypeptide. Rather, a factor that is bound to the A subunits of erythrocytes restricts free exchange with B subunits.     

Expression of the murine Duchenne muscular dystrophy gene in muscle and brain

Complementary DNA clones were isolated that represent the 5' terminal 2.5 kilobases of the murine Duchenne muscular dystrophy (Dmd) messenger RNA (mRNA). Mouse Dmd mRNA was detectable in skeletal and cardiac muscle and at a level approximately 90 percent lower in brain. Dmd mRNA is also present, but at much lower than normal levels, in both the muscle and brain of three different strains of dystrophic mdx mice. The identification of Dmd mRNA in brain raises the possibility of a relation between human Duchenne muscular dystrophy (DMD) gene expression and the mental retardation found in some DMD males. These results also provide evidence that the mdx mutations are allelic variants of mouse Dmd gene mutations.     

Infertility in female rabbits immunized with lactate dehydrogenase X

Immunization of female rabbits with the sperm-specific lactate dehydrogenase (LDH-X) resulted in a highly significant reduction of pregnancies compared to nonimmunized controls. This is the first demonstration of immunosuppression of fertility by a crystalline protein shown to be strictly homogeneous by ultracentrifugation, polyacrylamide gel electrophoresis, immunodiffusion, and micro complement fixation.     

Peafowl lactate dehydrogenase: problem of isoenzyme identification

Peafowl, like other vertebrates, contain multiple forms of lactate dehydrogenase. The electrophoretic properties of the peafowl isoenzymes are unusual in that the isoenzyme from heart tissue can be either more or less anodic than that of muscle, depending on the pH. This finding focuses attention on the problem of isoenzyme identification. It is suggested that isoenzymes be identified on the basis of properties that are chemically and biologically more significant than electrophoretic mobility.     

四种黄颡鱼乳酸脱氢酶同工酶电泳的研究

黄颡鱼(Pelteabagrus)又名“黄姑子”、黄腊丁、黄鼓鱼等,在湖南,被称为“黄鸭叫”,隶属于鲶形目科,为广布性鱼类,在我国各大水系均有分布,特别是在长江中下游的湖泊更为集中。黄颡鱼喜栖息于水底层,夜间则游至水上层觅食。其肉质细嫩、味道鲜美,已逐渐成为一特种淡水养殖鱼类,其养殖规模有迅速扩大之势。有关黄颡鱼的研究较多,但主要仅集中于生态研究[1-4],发育研究[5,6]和疾病的防治[7-10]等,对黄颡鱼生理生化、亲缘关系等的研究所见报道极少[11]。鱼类同工酶差异是鱼种间不同生化遗传结构的反映,因此我们对分布于洞庭湖区四种黄颡…     

四种黄颡鱼乳酸脱氢酶同工酶电泳的研究

黄颡鱼(Pelteabagrus)又名“黄姑子”、黄腊丁、黄鼓鱼等,在湖南,被称为“黄鸭叫”,隶属于鲶形目科,为广布性鱼类,在我国各大水系均有分布,特别是在长江中下游的湖泊更为集中。黄颡鱼喜栖息于水底层,夜间则游至水上层觅食。其肉质细嫩、味道鲜美,已逐渐成为一特种淡水养殖鱼类,其养殖规模有迅速扩大之势。有关黄颡鱼的研究较多,但主要仅集中于生态研究[1-4],发育研究[5,6]和疾病的防治[7-10]等,对黄颡鱼生理生化、亲缘关系等的研究所见报道极少[11]。鱼类同工酶差异是鱼种间不同生化遗传结构的反映,因此我们对分布于洞庭湖区四种黄颡…     

Linkage of lactate dehydrogenase B and C loci in pigeons

Synthesis of lactate dehydrogenase in somatic and gametic tissues of certain avian and mammalian species is controlled by alleles at three loci, A, B, and C. We report breeding experiments with pigeons that conclusively demonstrate linkage between the B and C structural loci in this species. The most probable recombination fraction is zero, and contiguity is not excluded. The upper 95 percent probability limit is 4.5 percent. This tight linkage of two loci that produce closely similar polypeptides suggests that the loci acquired their separate identities through a duplication event. Further-more, the existence of recognizable B- and C-type polypeptides in both the bird and the mammal suggests that the event and the resulting linkage preceded the separation of these fauna. If so, then the linkage has persisted for a very long time.     

Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy

Duchenne muscular dystrophy (DMD) and its less severe form Becker muscular dystrophy (BMD) are allelic disorders. It has been suggested that in the mutations involving BMD, the translational reading frame of messenger RNA is maintained and a smaller, though partially functional, protein is produced. In order to test this, the exon-intron boundaries of the first ten exons of the DMD gene were determined, and 29 patients were analyzed. In a number of BMD patients (mild and severe BMD), the reading frame of messenger RNA was not maintained. On the basis of these findings, a model for reinitiation from an internal start codon is suggested.