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1.
Adv Exp Med Biol ; 1441: 875-884, 2024.
Article in English | MEDLINE | ID: mdl-38884756

ABSTRACT

Tricuspid atresia (TA) is a rare congenital heart condition that presents with a complete absence of the right atrioventricular valve. Because of the rarity of familial and/or isolated cases of TA, little is known about the potential genetic abnormalities contributing to this condition. Potential responsible chromosomal abnormalities were identified in exploratory studies and include deletions in 22q11, 4q31, 8p23, and 3p as well as trisomies 13 and 18. In parallel, potential culprit genes include the ZFPM2, HEY2, NFATC1, NKX2-5, MYH6, and KLF13 genes. The aim of this chapter is to expose the genetic components that are potentially involved in the pathogenesis of TA in humans. The large variability in phenotypes and genotypes among cases of TA suggests a genetic network that involves many components yet to be unraveled.


Subject(s)
Tricuspid Atresia , Humans , Chromosome Aberrations , Phenotype , Tricuspid Atresia/genetics , Univentricular Heart/genetics
2.
Adv Exp Med Biol ; 1441: 885-900, 2024.
Article in English | MEDLINE | ID: mdl-38884757

ABSTRACT

The process of valve formation is a complex process that involves intricate interplay between various pathways at precise times. Although we have not completely elucidated the molecular pathways that lead to normal valve formation, we have identified a few major players in this process. We are now able to implicate TGF-ß, BMP, and NOTCH as suspects in tricuspid atresia (TA), as well as their downstream targets: NKX2-5, TBX5, NFATC1, GATA4, and SOX9. We know that the TGF-ß and the BMP pathways converge on the SMAD4 molecule, and we believe that this molecule plays a very important role to tie both pathways to TA. Similarly, we look at the NOTCH pathway and identify the HEY2 as a potential link between this pathway and TA. Another transcription factor that has been implicated in TA is NFATC1. While several mouse models exist that include part of the TA abnormality as their phenotype, no true mouse model can be said to represent TA. Bridging this gap will surely shed light on this complex molecular pathway and allow for better understanding of the disease process.


Subject(s)
Disease Models, Animal , Signal Transduction , Tricuspid Atresia , Animals , Tricuspid Atresia/genetics , Tricuspid Atresia/metabolism , Tricuspid Atresia/pathology , Humans , Mice , Univentricular Heart/genetics , Univentricular Heart/metabolism , Univentricular Heart/physiopathology , Univentricular Heart/pathology , NFATC Transcription Factors/metabolism , NFATC Transcription Factors/genetics , Transforming Growth Factor beta/metabolism , Transforming Growth Factor beta/genetics , Receptors, Notch/metabolism , Receptors, Notch/genetics
3.
Prostaglandins Other Lipid Mediat ; 78(1-4): 249-63, 2005 Dec.
Article in English | MEDLINE | ID: mdl-16303620

ABSTRACT

Sphingolipids (SLs) have a biomodulatory role in physiological as well as pathological cardiovascular conditions. This study aims to assess the variation of SL mediators and metabolizing enzymes in the growing and hypoxic rat heart. Sprague-Dawley rats were placed in a hypoxic environment at birth. Control animals remained in room air. In control animals, activities of acidic-sphingomyelinase (A-SMase), sphingomyelin synthase (SMS), glucosylceramide synthase (GCS), and ceramidase decreased with age in both ventricles whereas activity of neutral-sphingomyelinase (N-SMase) increased with age. Hypoxic RV mass was 171 and 229% that of controls, at 4 and 8 weeks, respectively. This was accompanied by an increase in RV myocardial ceramide synthesis, consumption and breakdown, with a net effect of suppression of ceramide accumulation and increase in diacylglycerol (DAG) concentration. In addition, significant increase in activities of: A-SMase by 26 and 29%, SMS by 108 and 40%, and ceramidase by 66 and 35%, in the hypoxic RV rats as compared to controls, was noted at 4 and 8 weeks of age, respectively. Sphingolipids and their regulating enzymes appear to play a role in adaptive responses to chronic hypoxia in the neonatal rat heart.


Subject(s)
Hypoxia/metabolism , Myocardium/metabolism , Signal Transduction , Sphingolipids/metabolism , Amidohydrolases/metabolism , Animals , Body Weight , Ceramidases , Glucosyltransferases/metabolism , Hematocrit , Myocardium/enzymology , Organ Size , Rats , Rats, Sprague-Dawley , Transferases (Other Substituted Phosphate Groups)/metabolism
4.
J Virol Methods ; 121(1): 31-8, 2004 Oct.
Article in English | MEDLINE | ID: mdl-15350730

ABSTRACT

Certification represents the first line of defense against fruit tree viruses. For certification or surveys dealing with large number of samples, ELISA is still considered the technique of choice and requires a continuous supply of good quality antibodies. Prune dwarf virus (PDV) is among the major viruses affecting stone fruits; it belongs to the genus Ilarvirus named so for its isometric labile particles. Recombinant DNA technology was investigated for production of PDV antiserum to avoid labile virus purification and virus maintenance problems. The PDV coat protein gene (CP) was cloned into a protein expression bacterial plasmid vector which allowed a good level of expression of up to 2mg native protein/L culture. The recombinant PDV CP was injected into rabbits and the crude antiserum was successfully used in indirect ELISA at dilutions of up to 1:5000 to detect PDV in infected leaf samples. Similar results were obtained in dot blot immunoassays (DBIA). The antibodies were used in double antibody sandwich enzyme-linked immunosorbent assay (DAS-ELISA) and results were comparable to a reference commercial kit. The crude antiserum was efficiently used for coating ELISA plates, thereby reducing test costs.


Subject(s)
Antibodies, Viral/immunology , Capsid Proteins/immunology , Enzyme-Linked Immunosorbent Assay , Ilarvirus/immunology , Ilarvirus/isolation & purification , Antigens, Viral/genetics , Antigens, Viral/immunology , Capsid Proteins/genetics , Cloning, Molecular , Genetic Vectors , Immunoblotting , Plant Leaves/virology , Plasmids/genetics , Recombinant Proteins/genetics , Recombinant Proteins/immunology
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