Biochemical and molecular medicine最新文献

Cumulative Subject Index for Volumes 60–62 60-62卷的累积主题索引

Biochemical and molecular medicine Pub Date : 1997-12-01 DOI: 10.1006/bmme.1997.2662

引用次数: 0

Hyperandrogenism and Manifesting Heterozygotes for 21-Hydroxylase Deficiency 21-羟化酶缺乏症的高雄激素症和明显的杂合子

Biochemical and molecular medicine Pub Date : 1997-12-01 DOI: 10.1006/bmme.1997.2632

Selma F. Witchel , Peter A. Lee , Makiko Suda-Hartman , Eric P. Hoffman

{"title":"Hyperandrogenism and Manifesting Heterozygotes for 21-Hydroxylase Deficiency","authors":"Selma F. Witchel , Peter A. Lee , Makiko Suda-Hartman , Eric P. Hoffman","doi":"10.1006/bmme.1997.2632","DOIUrl":"10.1006/bmme.1997.2632","url":null,"abstract":"<div><p>Premature adrenarche and functional adolescent androgen excess are common disorders which may evolve into polycystic ovary syndrome (PCOS). In all three disorders, ACTH-stimulated 17-hydroxyprogesterone concentrations are often somewhat elevated. To determine the role of 21-hydroxylase (CYP21) gene mutations in these disorders, we performed molecular genotype analysis on 48 children and adolescents referred for evaluation of hyperandrogenic findings and diagnosed as having premature adrenarche or functional androgen excess. For comparison, DNA samples from 80 healthy adults were genotyped. Seventeen of the 48 hyperandrogenic patients were found to be heterozygotic carriers of CYP21 mutations. The frequency of heterozygosity was significantly greater among symptomatic patients (35%) than among the healthy controls (6%),<em>P</em>< 0.001. Seven mutation-positive patients (50%) and only one mutation-negative patient had ACTH-stimulated 17-hydroxyprogesterone concentrations typical for heterozygotic carriers of 21-hydroxylase deficiency, 400–1000 ng/dl. The significant difference in heterozygote frequency between symptomatic patients and healthy controls suggests that heterozygosity for 21-hydroxylase deficiency may be associated with premature adrenarche and functional adolescent hyperandrogenism. Longitudinal studies are necessary to determine if heterozygosity for 21-hydroxylase deficiency predicts risk for PCOS.</p></div>","PeriodicalId":8837,"journal":{"name":"Biochemical and molecular medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"1997-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1006/bmme.1997.2632","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20369199","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: 90

Enzyme-Linked Immunosorbent Assay of Autoantibodies against Mitochondrial Glycerophosphate Dehydrogenase in Insulin-Dependent and Non-Insulin-Dependent Diabetic Subjects 胰岛素依赖型和非胰岛素依赖型糖尿病患者线粒体甘油磷酸脱氢酶自身抗体的酶联免疫吸附测定

Biochemical and molecular medicine Pub Date : 1997-12-01 DOI: 10.1006/bmme.1997.2642

M.E. Fabregat , C. Benito , M. Gudayol , J. Vidal , T. Gallart , W.J. Malaisse , R. Gomis

{"title":"Enzyme-Linked Immunosorbent Assay of Autoantibodies against Mitochondrial Glycerophosphate Dehydrogenase in Insulin-Dependent and Non-Insulin-Dependent Diabetic Subjects","authors":"M.E. Fabregat , C. Benito , M. Gudayol , J. Vidal , T. Gallart , W.J. Malaisse , R. Gomis","doi":"10.1006/bmme.1997.2642","DOIUrl":"10.1006/bmme.1997.2642","url":null,"abstract":"<div><p>The mitochondrial enzyme FAD-linked glycerophosphate dehydrogenase (mGDH) plays a key role in the recognition of glucose as a stimulus for insulin release from the pancreatic islet B-cell. In the present study, an ELISA procedure was used for the measurement of mGDH antibodies in both insulin-dependent (IDDM) and non-insulin-dependent (NIDDM) diabetic patients. Positive readings, exceeding the upper limit of the normal range, were recorded in 7 out of 12 IDDM patients, as distinct (<em>P</em>< 0.01) from 2 out of 12 nondiabetic subjects of comparable age. The study conducted in 41 NIDDM patients and 15 control subjects of similar age indicated that the incidence of mGDH-positive cases was not significantly different in the diabetic (4/41) and control (1/15) groups, the measurement of optical density in the positive cases barely exceeding the upper limit of the normal range. These findings indicate that the mitochondrial enzyme mGDH often acts as an antigenic determinant in IDDM, but not in NIDDM, patients.</p></div>","PeriodicalId":8837,"journal":{"name":"Biochemical and molecular medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"1997-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1006/bmme.1997.2642","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20371185","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: 5

Monoamine Oxidase and Semicarbazide-Sensitive Amine Oxidase Activities in Isolated Cardiomyocytes of Spontaneously Hypertensive Rats 自发性高血压大鼠离体心肌细胞单胺氧化酶和氨基脲敏感胺氧化酶活性

Biochemical and molecular medicine Pub Date : 1997-12-01 DOI: 10.1006/bmme.1997.2633

Roberto Pino, Paola Failli, Luca Mazzetti, Franca Buffoni

{"title":"Monoamine Oxidase and Semicarbazide-Sensitive Amine Oxidase Activities in Isolated Cardiomyocytes of Spontaneously Hypertensive Rats","authors":"Roberto Pino, Paola Failli, Luca Mazzetti, Franca Buffoni","doi":"10.1006/bmme.1997.2633","DOIUrl":"10.1006/bmme.1997.2633","url":null,"abstract":"<div><p>In the isolated cardiomyocytes of spontaneously hypertensive rats (SHR, 3 months old) MAO A and B activities were significantly increased compared to the myocytes in the hearts of age-matched Wistar–Kyoto rats. This increase was not associated with cardiac hypertrophy in these young animals, but might represent an early event in the development of hypertrophy. A semicarbazide-sensitive amine oxidase (SSAO) activity was found in cardiomyocytes. This activity showed a high affinity for benzylamine (<em>K<sub>m</sub></em>5–6 μM) and was not inhibited by 10<sup>−4</sup>M pargyline and 10<sup>−5</sup>M deprenyl, but was largely inhibited by 10<sup>−4</sup>M B<sub>24</sub>(3,5-diethoxy-4-aminomethylpyridine), a specific inhibitor of semicarbazide-sensitive amine oxidase with high affinity for benzylamine. The SSAO enzyme of rat cardiomyocytes is a copper-amine oxidase and has a cross-reactivity with the antibodies raised against pure pig plasma benzylamine oxidase. In the cardiomyocytes of 3-month-old SHR rats the level of this enzymic activity is not significantly increased.</p></div>","PeriodicalId":8837,"journal":{"name":"Biochemical and molecular medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"1997-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1006/bmme.1997.2633","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20371188","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: 23

Analysis of the 5′ Flanking Region of the Human Galactocerebrosidase (GALC) Gene 人半乳糖脑苷酶(GALC)基因5 '侧链区分析

Biochemical and molecular medicine Pub Date : 1997-12-01 DOI: 10.1006/bmme.1997.2643

Paola Luzi, Teresa Victoria, Mohammad A. Rafi, David A. Wenger

{"title":"Analysis of the 5′ Flanking Region of the Human Galactocerebrosidase (GALC) Gene","authors":"Paola Luzi, Teresa Victoria, Mohammad A. Rafi, David A. Wenger","doi":"10.1006/bmme.1997.2643","DOIUrl":"10.1006/bmme.1997.2643","url":null,"abstract":"<div><p>Galactocerebrosidase (GALC) is the lysosomal enzyme deficient in human and certain animal species with globoid cell leukodystrophy (GLD) or Krabbe disease. It catalyzes the hydrolysis of specific galactolipids including galactosylceramide and psychosine. The GALC protein is found in very low amounts in all tissues, which delayed its purification and the subsequent cloning of its cDNA and gene. We previously published the exon–intron organization of the human gene, but did not functionally analyze the 5′ flanking region. We now provide a description of this GC-rich region which includes one potential YY1 element and one potential SP1 binding site. There are 13 GGC trinucleotides within the first 150 bp preceding the initiation codon. The 5′ end of intron 1 contains six potential Sp1 binding sites, one AP1 binding site, and eight AP2 binding sites. A construct containing nucleotides −176 to −24 had the strongest promoter activity using a vector containing the chloramphenicol acetyltransferase reporter gene. We also provide evidence for the presence of inhibitory sequences located immediately upstream of the promoter region, and within the first 234 nucleotides of intron 1. These elements together with a suboptimal nucleotide at position +4 may explain the low level of GALC protein in all cell types.</p></div>","PeriodicalId":8837,"journal":{"name":"Biochemical and molecular medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"1997-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1006/bmme.1997.2643","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20369200","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: 9

Qualitative and Quantitative Changes in Skeletal Muscle mtDNA and Expression of Mitochondrial-Encoded Genes in the Human Aging Process 人类衰老过程中骨骼肌mtDNA的定性和定量变化及线粒体编码基因的表达

Biochemical and molecular medicine Pub Date : 1997-12-01 DOI: 10.1006/bmme.1997.2647

Antoni Barrientos , Jordi Casademont , Francesc Cardellach , Esther Ardite , Xavier Estivill , Alvaro Urbano-Márquez , J.Carlos Fernández-Checa , Virginia Nunes

{"title":"Qualitative and Quantitative Changes in Skeletal Muscle mtDNA and Expression of Mitochondrial-Encoded Genes in the Human Aging Process","authors":"Antoni Barrientos , Jordi Casademont , Francesc Cardellach , Esther Ardite , Xavier Estivill , Alvaro Urbano-Márquez , J.Carlos Fernández-Checa , Virginia Nunes","doi":"10.1006/bmme.1997.2647","DOIUrl":"10.1006/bmme.1997.2647","url":null,"abstract":"<div><p>It has been widely postulated that age-dependent changes in the mitochondrial genetic system may contribute to the human aging process. We recently reported unchanged specific activities of mitochondrial respiratory chain enzymes and a decrease in oxidation capacity of different substrates with aging, due, in part, to some confounding variables such as physical activity or tobacco consumption. The present study deals with age-related changes in muscle mtDNA structure and its biogenesis in humans. We found a low prevalence of mtDNA rearrangements with aging, only detected by PCR. The mtDNA content increased significantly with age (<em>b</em>= 0.0115,<em>P</em>< 0.0001). Also, an unchanged steady-state level of mitochondrial transcripts, a reduced transcription rate (<em>P</em>< 0.0001), and an increase in mitochondrial membrane lipid peroxidation (<em>P</em>< 0.0001) were observed in aging. These data demonstrate that minor structural mtDNA changes appear during the human aging process. By contrast, alterations in mitochondrial homeostasis ultimately producing modifications in mitochondrial biogenesis rates could play a role in the process of human senescence.</p></div>","PeriodicalId":8837,"journal":{"name":"Biochemical and molecular medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"1997-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1006/bmme.1997.2647","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20369201","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: 89

Preimplantation Diagnosis of Single Gene Disorders by Two-Step Oocyte Genetic Analysis Using First and Second Polar Body 第一极体和第二极体卵母细胞两步遗传分析在着床前诊断单基因疾病中的应用

Biochemical and molecular medicine Pub Date : 1997-12-01 DOI: 10.1006/bmme.1997.2635

Yury Verlinsky, Svetlana Rechitsky, Jeanine Cieslak, Victor Ivakhnenko, George Wolf, Aaron Lifchez, Brian Kaplan, Jacob Moise, Jorge Walle, Melody White, Norman Ginsberg, Charles Strom, Anver Kuliev

{"title":"Preimplantation Diagnosis of Single Gene Disorders by Two-Step Oocyte Genetic Analysis Using First and Second Polar Body","authors":"Yury Verlinsky, Svetlana Rechitsky, Jeanine Cieslak, Victor Ivakhnenko, George Wolf, Aaron Lifchez, Brian Kaplan, Jacob Moise, Jorge Walle, Melody White, Norman Ginsberg, Charles Strom, Anver Kuliev","doi":"10.1006/bmme.1997.2635","DOIUrl":"10.1006/bmme.1997.2635","url":null,"abstract":"<div><p>Previous work on preimplantation genetic diagnosis (PGD) of single gene disorders by the first polar body (IPB) analysis has demonstrated that the genotype of a considerable number of embryos resulting from heterozygous oocytes cannot be predicted without testing their second PB (IIPB). To overcome this limitation we introduce a two-step DNA analysis of oocytes using both IPB and IIPB to identify hemizygous mutation-free oocytes following the second meiotic division. In the application of the approach to PGD of cystic fibrosis (CF) Delta F-508 mutation, sickle cell disease, and hemophilia B, 80 oocytes were studied by both PBs, resulting in the identification and transfer of 32 homozygous normal embryos. A follow-up genotyping of 52 embryos, resulting from oocytes tested by both IPB and IIPB demonstrated the accuracy of the predicted genotypes. In addition to a nested PCR analysis of the mutant genes in PBs and resulting embryos, simultaneous amplification of different polymorphic markers was performed, demonstrating the reliability of the two-step polar body analysis of oocytes.</p></div>","PeriodicalId":8837,"journal":{"name":"Biochemical and molecular medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"1997-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1006/bmme.1997.2635","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20371187","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: 75

Author Index for Volume 62 第62卷作者索引

Biochemical and molecular medicine Pub Date : 1997-12-01 DOI: 10.1006/bmme.1997.2661

引用次数: 0

Differential Effects of Wilms Tumor WT1 Splice Variants on the Insulin Receptor Promoter Wilms肿瘤WT1剪接变异对胰岛素受体启动子的差异影响

Biochemical and molecular medicine Pub Date : 1997-12-01 DOI: 10.1006/bmme.1997.2648

Nicholas J.G. Webster , Yan Kong , Prem Sharma , Martin Haas , Saraswati Sukumar , B.Lynn Seely

{"title":"Differential Effects of Wilms Tumor WT1 Splice Variants on the Insulin Receptor Promoter","authors":"Nicholas J.G. Webster , Yan Kong , Prem Sharma , Martin Haas , Saraswati Sukumar , B.Lynn Seely","doi":"10.1006/bmme.1997.2648","DOIUrl":"10.1006/bmme.1997.2648","url":null,"abstract":"<div><p>The Wilms tumor gene WT1 has been implicated in the early development of the kidney. Mutations in WT1 are found in a small fraction of Wilms tumor, a pediatric nephroblastoma, and Denys–Drash syndrome, characterized by genitourinary abnormalities. The WT1 gene product functions as a transcriptional repressor of growth factor-related genes. The kidney is one of the major sites of insulin action<em>in vivo</em>and expresses high levels of insulin receptors (IR). IR expression has been detected during early embryogenesis, suggesting that it may play a role in development. We investigated whether two WT1 splice variants lacking or including a three-amino-acid (KTS) insertion between the third and fourth zinc finger in the DNA-binding domain could repress the IR promoter<em>in vitro.</em>We show that the +KTS variant effectively represses promoter activity under all conditions tested but the −KTS variant was only able to repress in the presence of cotransfected C/EBPβ or a dominant-negative p53 mutation. Deletional mapping indicated that distinct regions of the IR promoter mediated the effects of the two isoforms and DNaseI footprint analysis identified potential WT1 binding sites within these regions.</p></div>","PeriodicalId":8837,"journal":{"name":"Biochemical and molecular medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"1997-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1006/bmme.1997.2648","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20369198","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 24

A Common Deletion Mutation in European Patients with Sjögren-Larsson Syndrome 欧洲Sjögren-Larsson综合征患者中常见的缺失突变

Biochemical and molecular medicine Pub Date : 1997-12-01 DOI: 10.1006/bmme.1997.2640

William B. Rizzo , Gael Carney , Vincenzo De Laurenzi

引用次数: 32