Phenotype-genotype Correlation in CD36 Deficiency Types I and II

2000 ◽  
Vol 84 (09) ◽  
pp. 436-441 ◽  
Author(s):  
Hidekatsu Yanai ◽  
Hironobu Fujiwara ◽  
Mie Morimoto ◽  
Keisuke Abe ◽  
Shigeru Yoshida ◽  
...  
Keyword(s):  
Minor Role ◽  
Type I ◽  
Cd36 Deficiency ◽  
Cd36 Expression ◽  
Previous Hypothesis ◽  
Flanking Region ◽  
Silent Allele ◽  
A Minor ◽  
Cd36 Gene ◽  
Genotype Correlation

SummaryCD36 deficiency was studied with attention to the phenotypegenotype relationship. The diagnosis of CD36 deficiency was made when CD36 was negative on platelets (type II) or on both platelets and monocytes (type I). Among 827 apparently healthy Japanese volunteers, the type I and II deficiencies were found in 8 (1.0%) and 48 (5.8%), respectively. The T for C substitution at nt478 for Pro90Ser and the insertion of A at nt1159 constituted the major causes of type I and II deficiencies. The dinucleotide deletion at nt539 had a minor role. In two family studies, we found a previously unreported polymorphic site in the 5’-proximal flanking region and the 3’-untranslated region. Including these new polymorphisms, DNA sequence other than the three known mutations affecting CD36 expression was not observed in the CD36 gene, calling into question the previous hypothesis that a platelet-specific silent allele exists near or at the CD36 gene.

Family Studies of Type II CD36 Deficient Subjects: Linkage of a CD36 Allele to a Platelet-Specific mRNA Expression Defect(s) Causing Type II CD36 Deficiency

1995 ◽  
Vol 74 (02) ◽  
pp. 758-763 ◽  
Author(s):  
Hirokazu Kashiwagi ◽  
Yoshiaki Tomiyama ◽  
Satoru Kosugi ◽  
Masamichi Shiraga ◽  
Robert H Lipsky ◽  
...  
Keyword(s):  
Mrna Expression ◽  
Family Studies ◽  
Positive Control ◽  
Type Ii ◽  
Cd36 Deficiency ◽  
Cd36 Expression ◽  
Silent Allele ◽  
Compound Heterozygotes ◽  
Cd36 Gene ◽  
Specific Mrna

SummaryWe performed family studies with type II CD36 deficiency. In the Mi.Y family, the proband (YII.1) and his brother (YII.2) displayed a type II deficient phenotype. In the mother(YI.2), binding of the anti CD36 monoclonal antibody, 0KM5, to both platelets and monocytes was reduced as compared to CD36 positive control cells. In the father (YI.1), while 0KM5 binding to his platelets was reduced, that of his monocytes was almost the same as normal control monocytes. Analysis of genomic DNA showed that YI.2, YII.1 and YII.2 were heterozygous for a proline90→serine mutation, and showed that both alleles of YI.1 did not have the mutation. Analysis of CD36 cDNA showed that the Pro90 form of CD36 cDNA could be detected in monocytes, but not in platelets from YII.1 and YII.2. These data indicated that YII.1 and YII.2 could be compound heterozygotes; an allele having a platelet-specific mRNA expression defect(s), which was responsible for the different CD36 expression between their platelets and monocytes, and the Ser90 allele. YI.1 was suggested to be a carrier of the platelet-specific silent allele. The platelet-specific silent allele was linked to a specific genotype of a polymorphic microsatellite sequence in the CD36 gene, supporting our hypothesis that mRNA expression defect(s) occurred at or near the CD36 gene. In a second type IICD36 deficient family, we also obtained results consistent with this hypothesis.

Studies on CD36 deficiency in South China: Two cases demonstrating the clinical impact of anti-CD36 antibodies

2013 ◽  
Vol 110 (12) ◽  
pp. 1199-1206 ◽  
Author(s):  
Wenjie Xia ◽  
Jing Liu ◽  
Haoqiang Ding ◽  
Jing Deng ◽  
Yangkai Chen ◽  
...  
Keyword(s):  
Flow Cytometry ◽  
Blood Donors ◽  
Nucleotide Sequencing ◽  
Clinical Settings ◽  
Type I ◽  
Sequencing Analysis ◽  
Cd36 Deficiency ◽  
Immune Mediated ◽  
Cd36 Expression ◽  
Alloimmune Thrombocytopenia

SummaryCD36 (also known as GPIV) deficiency is known to be responsible for the production of anti-Naka antibodies in different clinical settings such as fetal/neonatal alloimmune thrombocytopenia (FNAIT), platelet transfusion refractoriness (PTR) and post-transfusion purpura (PTP). However, no data regarding the relevance of CD36 immunisation is currently available for China. In this study, healthy blood donors were typed for CD36 deficiency using flow cytometry. Nucleotide sequencing was performed to identify the molecular basis underlying the CD36 deficiency. Anti-Naka antibodies in CD36-deficient individuals were analysed by ELISA and flow cytometry. By analysis of 998 healthy blood donors, 18 individuals failed to express CD36 on their platelets. In 5/12 individuals no CD36 expression was detected both on platelets and monocytes. This result suggested that the frequencies of type I CD36 deficiency (platelets and monocytes) and type II CD36 deficiency (platelets only) are approximately 0.5 and 1.3%, respectively. Nucleotide sequencing analysis of type I CD36 deficient individuals revealed eight different mutations; four of them were not described so far. However, 1228–1239de/ ATTGTGCCTATT and 329–330de/AC appear to be the most common mutations related to type I CD36 deficiency in South Chinese population. Further analysis showed that 1/5 type I CD36 deficient individuals developed anti-Naka antibodies. In addition, anti-Naka antibodies could be identified in two cases of thrombocytopenia associated with FNAIT and PTR. In conclusion, more than 0.5% of CD36 type I-deficient individuals are at risk to be immunised through blood transfusion or pregnancy in China. Testing of anti-Naka antibodies should be considered in FNAIT and PTR suspected cases. A registry of CD36-deficient donors should be established to allow treatment of immune-mediated bleeding disorders caused by anti-Naka antibodies.

Myocardial CD36 expression and fatty acid accumulation in patients with type I and II CD36 deficiency

1998 ◽  
Vol 12 (5) ◽  
pp. 261-266 ◽  
Author(s):  
Kenichi Watanabe ◽  
Yoshimi Ohta ◽  
Ken Toba ◽  
Yusuke Ogawa ◽  
Haruo Hanawa ◽  
...  
Keyword(s):  
Fatty Acid ◽  
Type I ◽  
Cd36 Deficiency ◽  
Fatty Acid Accumulation ◽  
Cd36 Expression ◽  
Acid Accumulation

scholarly journals Ovariectomy-Induced Dysbiosis May Have a Minor Effect on Bone in Mice

2021 ◽  
Vol 9 (12) ◽  
pp. 2563
Author(s):  
Satoshi Kosaka ◽  
Yuji Nadatani ◽  
Akira Higashimori ◽  
Koji Otani ◽  
Kosuke Fujimoto ◽  
...  
Keyword(s):  
Gut Microbiota ◽  
Antibiotic Treatment ◽  
Minor Role ◽  
Rrna Gene ◽  
Minor Effect ◽  
Bone Resorption Marker ◽  
Type I ◽  
Mrna Levels ◽  
Mineral Density ◽  
A Minor

We determined the bone mineral density (BMD) and the expression of serum bone formation marker (procollagen type I N-terminal propeptide: PINP) and bone resorption marker (C-terminal telopeptide of collagen: CTX) by ELISA to evaluate ovariectomy-induced osteoporosis in ovariectomized (OVX) mice. The intestinal microbiota of the mice was assessed using 16S rRNA gene sequencing. OVX mice exhibited a lower BMD of 87% with higher serum levels of CTX and PINP compared to sham-operated (sham) mice. The cecum microbiome of OVX mice showed lower bacterial diversity than that of sham mice. TNFα mRNA levels in the colon were 1.6 times higher, and zonula occludens-1 mRNA and protein expression were lower in OVX mice than in sham mice, suggesting that ovariectomy induced inflammation and increased intestinal permeability. Next, we used antibiotic treatment followed by fecal microbiota transplantation (FMT) to remodel the gut microbiota in the OVX mice. A decrease in PINP was observed in antibiotic-treated mice, while there was no change in BMD or CTX between mice with and without antibiotic treatment. Oral transplantation of the luminal cecal content of OVX or sham mice to antibiotic-treated mice did not affect the BMD or PINP and CTX expression. Additionally, transplantation of the luminal contents of OVX or sham mice to antibiotic-treated OVX mice had similar effects on BMD, PINP, and CTX. In conclusion, although ovariectomy induces dysbiosis in the colon, the changes in the gut microbiota may only have a minor role in ovariectomy-induced osteoporosis.

scholarly journals mazEF Homologue Has a Minor Role in Staphylococcus epidermidis 1457 Virulence Potential

2022 ◽  
Vol 11 ◽  
Author(s):  
Vânia Gaio ◽  
Tânia Lima ◽  
Manuel Vilanova ◽  
Nuno Cerca ◽  
Angela França
Keyword(s):  
Immune System ◽  
Immune Cells ◽  
Staphylococcus Epidermidis ◽  
Biofilm Formation ◽  
Minor Role ◽  
Host Immune System ◽  
Vbnc State ◽  
Virulence Potential ◽  
Previous Hypothesis ◽  
A Minor

Staphylococcus epidermidis biofilm cells are characterized by increased antimicrobial tolerance and improved ability to evade host immune system defenses. These features are, in part, due to the presence of viable but non-culturable (VBNC) cells. A previous study identified genes potentially involved in VBNC cells formation in S. epidermidis biofilms, among which SERP1682/1681 raised special interest due to their putative role as a toxin–antitoxin system of the mazEF family. Herein, we constructed an S. epidermidis mutant lacking the mazEF genes homologues and determined their role in (i) VBNC state induction during biofilm formation, (ii) antimicrobial susceptibility, (iii) survival in human blood and plasma, and (iv) activation of immune cells. Our results revealed that mazEF homologue did not affect the proportion of VBNC cells in S. epidermidis 1457, refuting the previous hypothesis that mazEF homologue could be linked with the emergence of VBNC cells in S. epidermidis biofilms. Additionally, mazEF homologue did not seem to influence key virulence factors on this strain, since its deletion did not significantly affect the mutant biofilm formation capacity, antimicrobial tolerance or the response by immune cells. Surprisingly, our data suggest that mazEF does not behave as a toxin–antitoxin system in S. epidermidis strain 1457, since no decrease in the viability and culturability of bacteria was found when only the mazF toxin homologue was being expressed.

Differential sensitivity to surface compliance by tactile afferents in the human finger pad

2014 ◽  
Vol 111 (6) ◽  
pp. 1308-1317 ◽  
Author(s):  
Melia Condon ◽  
Ingvars Birznieks ◽  
Kathryn Hudson ◽  
David K. Chelvanayagam ◽  
David Mahns ◽  
...  
Keyword(s):  
Firing Rate ◽  
Linear Increase ◽  
Differential Sensitivity ◽  
Minor Role ◽  
Type I ◽  
Unloading Rate ◽  
Low Threshold ◽  
Human Finger ◽  
A Minor ◽  
Finger Pad

We undertook a neurophysiological investigation of the responses of low-threshold mechanoreceptors in the human finger pad to surfaces of differing softness. Unitary recordings were made from 26 slowly adapting type I (SAI), 17 fast-adapting type I (FAI), and 9 slowly adapting type II (SAII) afferents via tungsten microelectrodes inserted into the median nerve at the wrist. A servo-controlled stimulator applied ramp-and-hold forces (1, 2, 4 N) at a constant loading and unloading rate (2 N/s) via a flat silicone disc over the center of the finger pad. Nine discs were used, which linearly increased in stiffness across the range. Population responses of the SAI afferents showed the greatest sensitivity to compliance, with a steep monotonic increase in mean firing rate with increasing stiffness (decreasing compliance) of the surface during the loading and plateau (but not unloading) phases. FAI afferents also showed a linear increase in firing during the loading but not unloading phase, although the slope was significantly lower than that of the SAI afferents at all amplitudes. Conversely, SAII afferents were influenced by object compliance only in certain conditions. Given their high density in the finger pads and their linear relationship between firing rate and object compliance during the loading and plateau phases, SAI afferents (together with FAI afferents during the loading phase) are ideally suited to contributing information on surface compliance to the overall estimation of softness, but the SAII afferents appear to play only a minor role.

Neonatal isoimmune thrombocytopenia caused by type I CD36 deficiency having novel splicing isoforms of the CD36 gene

2008 ◽  
Vol 81 (1) ◽  
pp. 70-74 ◽  
Author(s):  
Takeshi Taketani ◽  
Kimiko Ito ◽  
Seiji Mishima ◽  
Rie Kanai ◽  
Atsushi Uchiyama ◽  
...  
Keyword(s):  
Type I ◽  
Cd36 Deficiency ◽  
Splicing Isoforms ◽  
Cd36 Gene

The Effect of Path Length and Display Size on Memory for Spatial Information

2012 ◽  
Vol 59 (3) ◽  
pp. 147-152 ◽  
Author(s):  
Katherine Guérard ◽  
Sébastien Tremblay
Keyword(s):  
Path Length ◽  
Potential Role ◽  
Spatial Information ◽  
Recall Performance ◽  
Minor Role ◽  
Length Effect ◽  
Serial Memory ◽  
Fixed Reference ◽  
A Minor

In serial memory for spatial information, some studies showed that recall performance suffers when the distance between successive locations increases relatively to the size of the display in which they are presented (the path length effect; e.g., Parmentier et al., 2005) but not when distance is increased by enlarging the size of the display (e.g., Smyth & Scholey, 1994). In the present study, we examined the effect of varying the absolute and relative distance between to-be-remembered items on memory for spatial information. We manipulated path length using small (15″) and large (64″) screens within the same design. In two experiments, we showed that distance was disruptive mainly when it is varied relatively to a fixed reference frame, though increasing the size of the display also had a small deleterious effect on recall. The insertion of a retention interval did not influence these effects, suggesting that rehearsal plays a minor role in mediating the effects of distance on serial spatial memory. We discuss the potential role of perceptual organization in light of the pattern of results.

Cloning of the cDNA Encoding Human Platelet CD36: Comparison to PCR Amplified Fragments of Monocyte, Endothelial and HEL Cells

1993 ◽  
Vol 70 (03) ◽  
pp. 500-505 ◽  
Author(s):  
B Wyler ◽  
L Daviet ◽  
H Bortkiewicz ◽  
J-C Bordet ◽  
J L McGregor
Keyword(s):  
Apparent Molecular Weight ◽  
Platelet Glycoprotein ◽  
Rt Pcr ◽  
Post Translational Modifications ◽  
Hel Cells ◽  
Flanking Region ◽  
Polymerase Chain ◽  
A Minor ◽  
Flanking Regions ◽  
Cdna Fragments

SummaryGlycoprotein CD36, also known as GPIIIb or GPIV, is a major platelet glycoprotein that bears the newly identified Naka alloantigen. The aim of this study was to clone platelet CD36 and investigate other forms of CD36-cDNA present in monocytes, endothelial and HEL cells. RNA from above mentioned cells were reverse transcribed (RT), using specific primers for CD36, and amplified by the polymerase chain reaction (PCR) technique. Sequencing the different amplified platelet derived cDNA fragments, spanning the whole coding and flanking regions, showed the near identity between platelet and CD36-placenta cDNA. Platelet CD36-cDNA cross-hybridized, in Southern blots, with RT-PCR amplified cDNA originating from monocytes, endothelial and HEL cells. However, monocytes showed a RT-PCR amplified cDNA fragment (561 bp) that was present in platelets and placenta but not on endothelial on HEL-cells. Northern blot analysis of platelet RNA hybridized with placenta CD36 indicated the presence of a major (1.95 kb) and a minor (0.95 kb) transcript. The 1.95 kb transcript was the only one observed on Northern blots of monocytes, endothelial and HEL cells. These results indicate that the structure of CD36 expressed in platelets is similar, with the exception of the 3’ flanking region, to that of placenta. Differences in apparent molecular weight between CD36 and CD36-like glycoproteins may be due to post-translational modifications.

Use of Different Tissue Thromboplastins in the Control of Anticoagulant-Therapy

1958 ◽  
Vol 02 (05/06) ◽  
pp. 462-480 ◽  
Author(s):  
Marc Verstraete ◽  
Patricia A. Clark ◽  
Irving S. Wright
Keyword(s):  
Prothrombin Time ◽  
Anticoagulant Therapy ◽  
Factor Vii ◽  
Rabbit Brain ◽  
Minor Role ◽  
Rabbit Lung ◽  
Coagulation Mechanism ◽  
Time Test ◽  
The One ◽  
A Minor

SummaryAn analysis of the results of prothrombin time tests with different types of thromboplastins sheds some light on the problem why the administration of coumarin is difficult to standardize in different centers. Our present ideas on the subject, based on experimental data may be summarized as follows.Several factors of the clotting mechanism are influenced by coumarin derivatives. The action of some of these factors is by-passed in the 1-stage prothrombin time test. The decrease of the prothrombin and factor VII levels may be evaluated in the 1-stage prothrombin time determination (Quick-test). The prolongation of the prothrombin times are, however, predominantly due to the decrease of factor VII activity, the prothrombin content remaining around 50 per cent of normal during an adequate anticoagulant therapy. It is unlikely that this degree of depression of prothrombin is of major significance in interfering with the coagulation mechanism in the protection against thromboembolism. It may, however, play a minor role, which has yet to be evaluated quantitatively. An exact evaluation of factor VII is, therefore, important for the guidance of anticoagulant therapy and the method of choice is the one which is most sensitive to changes in factor VII concentration. The 1-stage prothrombin time test with a rabbit lung thromboplastin seems the most suitable method because rabbit brain preparations exhibit a factor VII-like activity that is not present in rabbit lung preparations.

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