Glycosidases in Normal Human Leukocytes and Abnormalities in GM1-Gangliosidosis

Abstract Leukocyte enzyme assay is a valuable tool in the diagnosis of mucolipidoses and glycosphingolipidoses. Accurate resolution of the normal ranges of glycosidase activity is vital in the evaluation of both homozygotes and suspected heterozygote carriers. Activities of leukocyte β-galactosidase, α-galactosidase, α-mannosidase, β-fucosidase, β-glucosaminidase, and β-galactosaminidase were measured in a large population of normal subjects and demonstrated, within 95% confidence limits, to be normally distributed. Leukocyte glycosidases were determined in a GM1-gangliosidosis homozygote and in the heterozygous parents. A previously unreported deficiency of β-fucosidase and the well-known deficiency of β-galactosidase were demonstrated in the proband, and corresponding but less severe deficiencies of both glycosidases were found in the parents. β-Galactosidase and β-fucosidase may represent a single enzyme, unspecific for the carbon 6 of galactose. If not, the genetic defect in GM1-gangliosidosis may be more profound than has been recognized.

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IMMUNOLOGICAL REACTIVITY OF INSULIN IN HUMAN SERUM

Acta Endocrinologica ◽

10.1530/acta.0.0530673 ◽

1966 ◽

Vol 53 (4) ◽

pp. 673-680 ◽

Cited By ~ 5

Author(s):

Torsten Deckert ◽

Kai R. Jorgensen

Keyword(s):

Normal Subjects ◽

The Other ◽

Human Pancreas ◽

Porcine Pancreas ◽

Crystalline Insulin ◽

Endogenous Insulin ◽

Significant Difference ◽

Human Sera ◽

Normal Human ◽

The One

ABSTRACT The purpose of this study was to investigate whether a difference could be demonstrated between crystalline insulin extracted from normal human pancreas, and crystalline insulin extracted from bovine and porcine pancreas. Using Hales & Randle's (1963) immunoassay no immunological differences could be demonstrated between human and pig insulin. On the other hand, a significant difference was found, between pig and ox insulin. An attempt was also made to determine whether an immunological difference could be demonstrated between crystalline pig insulin and crystalline human insulin from non diabetic subjects on the one hand and endogenous, circulating insulin from normal subjects, obese subjects and diabetic subjects on the other. No such difference was found. From these experiments it is concluded that endogenous insulin in normal, obese and diabetic human sera is immunologically identical with human, crystalline insulin from non diabetic subjects and crystalline pig insulin.

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Establishment of a PCR and restriction enzyme assay for the detection of the hemochromatosis gene in normal subjects and diabetic patients

10.25148/etd.fi14060153 ◽

1998 ◽

Author(s):

Lim Cheat Eng

Keyword(s):

Restriction Enzyme ◽

Enzyme Assay ◽

Normal Subjects ◽

Diabetic Patients ◽

Hemochromatosis Gene

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A kinetic analysis of coupled sequential enzyme reactions

10.26434/chemrxiv.5746065.v2 ◽

2018 ◽

Author(s):

Justin Eilertsen ◽

Santiago Schnell

Keyword(s):

Enzyme Assay ◽

Sequential Reaction ◽

Enzyme Reactions ◽

Indicator Reaction ◽

Single Substrate ◽

Complex Sequences ◽

Catalyzed Reactions ◽

Enzyme Catalyzed Reactions ◽

Single Enzyme

<div>As a case study, we consider a coupled enzyme assay of sequential enzyme reactions obeying the Michaelis--Menten reaction mechanism. The sequential reaction consists of a single-substrate, single-enzyme non-observable reaction followed by another single-substrate, single-enzyme observable reaction (indicator reaction). In this assay, the product of the non-observable reaction becomes the substrate of the indicator reaction. A mathematical analysis of the reaction kinetics is performed, and it is found that after an initial fast transient, the sequential reaction is described by a pair of interacting Michaelis--Menten equations. Timescales that approximate the respective lengths of the indicator and non-observable reactions, as well as conditions for the validity of the Michaelis--Menten equations are derived. The theory can be extended to deal with more complex sequences of enzyme catalyzed reactions.</div>

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A kinetic analysis of coupled sequential enzyme reactions

10.26434/chemrxiv.5746065.v1 ◽

2018 ◽

Author(s):

Justin Eilertsen ◽

Santiago Schnell

Keyword(s):

Enzyme Assay ◽

Sequential Reaction ◽

Enzyme Reactions ◽

Indicator Reaction ◽

Single Substrate ◽

Complex Sequences ◽

Catalyzed Reactions ◽

Enzyme Catalyzed Reactions ◽

Single Enzyme

<div>As a case study, we consider a coupled enzyme assay of sequential enzyme reactions obeying the Michaelis-Menten reaction mechanism. The sequential reaction consists of a single-substrate, single enzyme non-observable reaction followed by another single-substrate, single enzyme observable reaction (indicator reaction). In this assay, the product of the non-observable reaction becomes the substrate of the indicator reaction. A mathematical analysis of the reaction kinetics is performed, and it is found that after an initial fast transient, the sequential reaction is described by a pair of interacting Michaelis-Menten equations. Timescales that approximate the respective lengths of the indicator and non-observable reactions, as well as conditions for the validity of the Michaelis-Menten equations are derived. The theory can be extended to deal with more complex sequences of enzyme catalyzed reactions.</div>

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Characteristics of asparagine-linked sugar chains of sphingolipid activator protein 1 purified from normal human liver and GM1 gangliosidosis (type 1) liver

Biochemistry ◽

10.1021/bi00464a020 ◽

1990 ◽

Vol 29 (12) ◽

pp. 3030-3039 ◽

Cited By ~ 13

Author(s):

Katsuko Yamashita ◽

Koji Inui ◽

Kazuhide Totani ◽

Naohisa Kochibe ◽

Masumi Furukawa ◽

...

Keyword(s):

Human Liver ◽

Activator Protein 1 ◽

Gm1 Gangliosidosis ◽

Activator Protein ◽

Normal Human Liver ◽

Normal Human ◽

Sugar Chains

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Viscosity of normal human blood under normothermic and hypothermic conditions

Journal of Applied Physiology ◽

10.1152/jappl.1964.19.1.117 ◽

1964 ◽

Vol 19 (1) ◽

pp. 117-122 ◽

Cited By ~ 208

Author(s):

Peter W. Rand ◽

Eleanor Lacombe ◽

Hamilton E. Hunt ◽

William H. Austin

Keyword(s):

Blood Flow ◽

Shear Rate ◽

Heart Surgery ◽

Blood Rheology ◽

Normal Subjects ◽

Future Studies ◽

Flow Impedance ◽

Normal Human ◽

Technical Details ◽

Normal Human Blood

Although blood viscosity varies in relation to shear rate, hematocrit, and temperature, equipment is now available with which it may be measured in respect to each of these variables. A simple, clinically practical technique for such measurement is presented. Blood from 60 normal subjects was adjusted to hematocrits 0, 20, 40, 60, and 80, and the viscosity-shear rate relationships measured at 37.0, 32.0, 27.0, and 22.0 C. The data obtained are presented as a reference for future studies using this method. Technical details are discussed and some deserving areas of application are considered. shear rate; cone-plate viscometer; hematocrit-viscosity relationships; blood, plasma; hematocrit; temperature; blood flow impedance; perfusion; shock; oliguria; dyspnea; coma; heart surgery; blood rheology; metabolism Submitted on May 31, 1963

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Decrease Tyrosine Phosphorylation of Stat3 in Human Myocardium with End-Stage Congestive Heart Failure

Microscopy and Microanalysis ◽

10.1017/s1431927600035479 ◽

2000 ◽

Vol 6 (S2) ◽

pp. 596-597

Author(s):

C. Wei ◽

J. S. McLaughlin

Keyword(s):

Heart Failure ◽

Congestive Heart Failure ◽

Protein Expression ◽

Cardiac Tissue ◽

Normal Subjects ◽

Human Myocardium ◽

Stat3 Phosphorylation ◽

Normal Human ◽

Human Cardiac Tissue ◽

End Stage

Recent study demonstrated that decrease signal transducer and activator of transcription-3 (STAT3) phosphorylation and increase apoptosis might be a critical point in the transition between compensatory cardiac hypertrophy and heart failure. To date, the protein expression of STAT3 in normal and failing human heart remains unclear. Therefore, the current study was designed to investigate the protein expression of STAT3 in human myocardium with end-stage congestive heart failure (CHF) and compared with that in normal human cardiac tissue.Human cardiac atrial tissue was obtained from normal subjects (n=5) and end-stage CHF patients (n=5) during cardiac transplantation. To detect the DNA fragmentation, in situ terminal deoxymucleotidyl transferase dUTP nick end labeling (TUNEL) was performed. An average of 1000 nuclei was analyzed for TUNEL study. STAT3 protein expression and phosphorylation of STAT3 were determined by immunohistochemical staining (IHCS) with total STAT3 and phospho-specific STAT3 antibodies.

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Rate of uptake of carbon monoxide at different inspired concentrations in humans

Journal of Applied Physiology ◽

10.1152/jappl.1982.52.1.109 ◽

1982 ◽

Vol 52 (1) ◽

pp. 109-113 ◽

Cited By ~ 4

Author(s):

H. A. Jones ◽

J. C. Clark ◽

E. E. Davies ◽

R. E. Forster ◽

J. M. Hughes

Keyword(s):

Carbon Monoxide ◽

Transport System ◽

Human Lung ◽

Normal Subjects ◽

Facilitated Transport ◽

Diffusing Capacity ◽

Normal Human ◽

The Mean ◽

Co Concentrations

The rate of uptake of carbon monoxide (CO) in the lungs of normal subjects were measured at inspired concentrations of less than 1, 300, and 3,000 ppm (less than 0.0001–0.3%) using radioactive CO (11CO). In nine subjects the rate of uptake was monitored at the mouth during rebreathing. At inspired CO concentrations of approximately 1, 300, and 3,000 ppm and a mean alveolar O2 fraction of 0.15, the mean lung diffusing capacity was 25.8, 26.4, and 25.3 ml . min-1. Torr-1, respectively. In seven subjects the measurements were repeated after a period of O2 breathing, giving a mean alveolar O2 fraction of 0.78. The calculated membrane diffusing capacity was 31.9, 33.7, and 32.0 ml . min-1. Torr-1 at less than 1, 300, and 3,000 ppm inspired CO. We conclude that there is no difference in the rate of uptake of CO over the range of concentrations studied in these experiments. No evidence for the presence of a facilitated transport system for CO in the normal human lung was found.

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Facial nerve electroneurography: variability in normal subjects

Arquivos de Neuro-Psiquiatria ◽

10.1590/s0004-282x1996000300005 ◽

1996 ◽

Vol 54 (3) ◽

pp. 393-396 ◽

Cited By ~ 1

Author(s):

Jovany Luis Alves de Medeiros ◽

João Antonio Maciel Nobrega ◽

Luiz Augusto Franco de Andrade ◽

Yara Juliano

Keyword(s):

Facial Nerve ◽

Action Potentials ◽

Normal Values ◽

Normal Subjects ◽

Nasolabial Fold ◽

Confidence Limits ◽

Muscle Action ◽

Surface Electrodes ◽

Normal Individuals ◽

Compound Muscle Action Potentials

Twenty normal individuals were submitted to facial nerve electroneurography using different techniques in order to determine the most accurate to obtain the latencies and amplitudes of the compound muscle action potentials (CMAP) of the facial muscles. First of all it was determined in which muscle or muscle group highest amplitude CMAP could be recorded with the lowest variability between sides and in test-retest. Different techniques were studied in order to determine which could give the best results. This was shown to be an arrangement of bipolar surface electrodes fixed to a plastic bar. The records with higher amplitude where obtained from the nasolabial fold muscles. Therefore 65 normal volunteers were examined using this technique and recording the potentials obtained over the nasolabial fold muscles. Normal values were determined (latency lower than 4.5 ms and amplitude larger than 2 mV - 95% confidence limits).

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