Abstract:
:Both idiopathic restrictive cardiomyopathy (IRCM) and hypertrophic cardiomyopathy (HCM) are part of the same disease spectrum and are due to sarcomeric gene mutations. A patient with restrictive physiology without left ventricular hypertrophy (LVH) would be diagnosed as IRCM, while one with LVH would be diagnosed as HCM with restrictive physiology. We studied a group of patients with restrictive physiology for mutations in beta-myosin heavy chain (MYH7) and troponin I (TNNI3) gene. Consecutive probands in the HCM and IRCM cohort over a 4-year period were considered for this study. These included 10 IRCM and 102 HCM patients. All were Asian Indians. Among the 17 patients who had restrictive physiology 10 were IRCM patients and seven were HCM patients. Of the HCM patients, seven (6.9%) had restrictive physiology. Mean age of these 17 patients was 40.1 +/- 19.2 years (range: 15-67 ), six (35.3%) were males. Maximal left ventricular wall thickness of the seven HCM probands was 20.7 +/- 5.2 mm (range: 16-31), while it was normal in the IRCM probands. Ten probands (58.8%) were in NYHA class III or IV. Seven patients (41.2%) had atrial fibrillation. All the probands were screened for mutations in selected exons of MYH7 and TNNI3 genes. One IRCM patient was found to have p.Arg721Lys mutation in the MYH7 gene. She died due to progressive congestive cardiac failure at the age of 47 years. One HCM proband with a maximal left ventricular wall thickness of 17 mm had p.Arg192His mutation in the TNNI3 gene. She had features consistent with restrictive physiology. Her father and sister had died of restrictive cardiomyopathy. IRCM and HCM with restrictive physiology, both are part of the clinical expression of MYH7 and TNNI3 mutations and lead to worse clinical onset and progression of the disease.
journal_name
Mol Cell Biochemjournal_title
Molecular and cellular biochemistryauthors
Rai TS,Ahmad S,Ahluwalia TS,Ahuja M,Bahl A,Saikia UN,Singh B,Talwar KK,Khullar Mdoi
10.1007/s11010-009-0157-7subject
Has Abstractpub_date
2009-11-01 00:00:00pages
187-92issue
1-2eissn
0300-8177issn
1573-4919journal_volume
331pub_type
杂志文章abstract::Carbohydrate has been removed from a number of glycoproteins without major effect on the structure or enzyme activity of the protein. Thus carbohydrate has been suggested to underly a non-primary function for proteins, such as in relatively non-specific interactions with other carbohydrates or macromolecules, stabiliz...
journal_title:Molecular and cellular biochemistry
pub_type: 杂志文章,评审
doi:10.1007/BF00230632
更新日期:1986-11-01 00:00:00
abstract::In this study we tested the hypothesis that reduced myofibrillar ATPase activities in end-stage heart failure are associated with a redistribution of myosin isozymes. Cardiac myofibrils were isolated from left ventricular free wall from normal human hearts and hearts at end-stage heart failure caused by coronary arter...
journal_title:Molecular and cellular biochemistry
pub_type: 杂志文章
doi:10.1007/BF00228455
更新日期:1990-07-17 00:00:00
abstract::This study was designed to investigate the alterations in the levels of various proteases such as angiotensin converting enzyme (ACE), kallikrein, aminopeptidases, urokinase and plasmin in serum-heart and kidney and to find out whether the changes in the levels of these enzymes could explain the pathogeneses of hypert...
journal_title:Molecular and cellular biochemistry
pub_type: 杂志文章
doi:10.1023/a:1006991009036
更新日期:1999-07-01 00:00:00
abstract::Methylxanthines are widely consumed because of their stimulating effect primarily on the central nervous system. Their diuretic and respiratory stimulant action is used in clinical medicine. L-Arginine metabolism in the brain is very important for normal brain function. In addition to brain protein synthesis, arginine...
journal_title:Molecular and cellular biochemistry
pub_type: 杂志文章
doi:
更新日期:2003-02-01 00:00:00
abstract::The action of 7.2 microM cardiotoxin on 0.25% human erythrocytes in a plasma extender solution was studied by the interaction of toxin with intact red blood cells and subsequent hemolysis of the cells. The binding of toxin to cells was completed within 10 min, whereas the membrane rigidity was weakened in a non-lytic ...
journal_title:Molecular and cellular biochemistry
pub_type: 杂志文章
doi:10.1007/BF00229378
更新日期:1987-01-01 00:00:00
abstract::Differentiation of 3T3-L1 preadipocytes, induced by methyl-isobutylxanthine (MIX), dexamethasone (DEX), and insulin, results in cells with the morphological and biochemical characteristics of adipocytes. Following incubation of 3T3-L1 cells with MIX, DEX, and insulin, poly(ADP-ribose) synthetase activity decreased abr...
journal_title:Molecular and cellular biochemistry
pub_type: 杂志文章,评审
doi:10.1007/BF00225255
更新日期:1983-01-01 00:00:00
abstract::Migration and proliferation of smooth muscle cells (SMC) are important events during arteriogenesis, but the underlying mechanism is still only partially understood. The present study investigates the expression of integrins alpha 5 beta 1 and v beta 3 as well as focal adhesion kinase (FAK) and phosphorylated FAK (pY3...
journal_title:Molecular and cellular biochemistry
pub_type: 杂志文章
doi:10.1007/s11010-008-9953-8
更新日期:2009-02-01 00:00:00
abstract::Gastric pathology is a common complication in diabetes mellitus. The aim of the study was to evaluate the functions and morphological changes of the parietal cells of the rat stomach after streptozotocin-induced diabetes. Diabetes mellitus was induced in Wistar rats by a single intraperitoneal injection of streptozoto...
journal_title:Molecular and cellular biochemistry
pub_type: 杂志文章
doi:10.1007/s11010-010-0435-4
更新日期:2010-08-01 00:00:00
abstract::Abnormal angiogenesis underlies many pathological conditions and is critical for the growth and maintenance of various types of tumors, including hormone-dependent cancers. Since estrogens are potent carcinogens in humans and rodents, and are involved in regulating angiogenesis, this study was designed to examine the ...
journal_title:Molecular and cellular biochemistry
pub_type: 杂志文章
doi:10.1023/a:1006888020596
更新日期:1997-12-01 00:00:00
abstract::Two preparations with arginyl-tRNA synthetase activity have been obtained from rabbit liver post-microsomal fraction: a) a high-molecular-weight containing the multienzyme aminoacyl-tRNA synthetase complex and b) a low-molecular-weight preparation containing free enzymes. Thermal inactivation of arginyl-tRNA synthetas...
journal_title:Molecular and cellular biochemistry
pub_type: 杂志文章
doi:10.1007/BF00222612
更新日期:1989-04-11 00:00:00
abstract::The regulation of the guinea-pig pancreatic acinar plasma membrane Ca2+ pump by protein kinase A, protein kinase C and calmodulin was investigated. The results were compared with the effects of these regulators on the high affinity Ca(2+)-ATPase found in this membrane preparation. The catalytic subunit of cyclic AMP-d...
journal_title:Molecular and cellular biochemistry
pub_type: 杂志文章
doi:10.1007/BF00227572
更新日期:1992-06-26 00:00:00
abstract::Ischemia of the heart is accompanied by the tissue accumulation of long-chain fatty acids and their metabolic derivatives such as beta-hydroxy fatty acids and fatty acyl-CoA and acyl-L-carnitine esters. These substances might be detrimental for proper myocardial function. Previously, it has been suggested that intrace...
journal_title:Molecular and cellular biochemistry
pub_type: 杂志文章,评审
doi:10.1007/BF01076489
更新日期:1993-06-09 00:00:00
abstract::Hyperuricemic nephropathy (HN) is a common clinical complication of hyperuricemia. High-serum uric acid can trigger renal inflammation. The inflammasome family has several members and shows a significant effect on inflammatory responses. NLRP3 (NOD-, LRR-, and pyrin domain-containing 3) senses the stimuli signal of ex...
journal_title:Molecular and cellular biochemistry
pub_type: 杂志文章,评审
doi:10.1007/s11010-020-03997-z
更新日期:2021-01-03 00:00:00
abstract::Twigs-dry leaves smoke condensate (TDS) was investigated for its DNA damaging activity in human peripheral lymphocytes, by using a sensitive method, fluorescence analysis of DNA unwinding (FADU). An aqueous turmeric component (Aq.T) was studied as a protective agent. TDS at one to 100 folds dilution induced 55% DNA da...
journal_title:Molecular and cellular biochemistry
pub_type: 杂志文章
doi:10.1007/BF00219526
更新日期:1990-06-01 00:00:00
abstract::Hyperhomocysteinemia (HHcy) is an independent risk factor of cardiovascular disease, but the mechanisms of tissue injury are poorly understood. In the present study, we investigated the effect of HHcy on rat heart function, activities electron transport chain (ETC) complexes, mitochondrial protein expression, and prot...
journal_title:Molecular and cellular biochemistry
pub_type: 杂志文章
doi:10.1007/s11010-015-2588-7
更新日期:2016-01-01 00:00:00
abstract::Tripeptide aminopeptidase (EC 3.4.11.4) was purified from bovine dental follicles by a series of chromatographies. Purified enzyme had a specific activity of 59.5 units per mg protein with L-prolyl-glycylglycine as substrate. The pH optimum was 8.0. The purified native enzyme had a Mr of 230,000 and was shown to be a ...
journal_title:Molecular and cellular biochemistry
pub_type: 杂志文章
doi:10.1007/BF00926579
更新日期:1993-12-08 00:00:00
abstract::The effect of anti-regucalcin monoclonal antibody on neutral phoshatase activity in rat liver cytosol was investigated. Phosphotyrosine, phosphoserine, and phosphothreonine were used as the substrate toward phosphatase assay. Liver cytosolic phosphatase activity with three phosphoaminoacids was significantly increased...
journal_title:Molecular and cellular biochemistry
pub_type: 杂志文章
doi:10.1023/a:1006979606225
更新日期:1999-07-01 00:00:00
abstract::In hypertensive animals and patients, oxidative stress represents the primary risk factor for progression of left ventricular hypertrophy. Recently, it has been demonstrated that hydrogen, as a novel antioxidant, can selectively reduce hydroxyl radicals and peroxynitrite anion to exert therapeutic antioxidant activity...
journal_title:Molecular and cellular biochemistry
pub_type: 杂志文章
doi:10.1007/s11010-012-1264-4
更新日期:2012-06-01 00:00:00
abstract::Formation of foam cells from macrophages, which are formed by the differentiation of blood-borne monocytes, is a critical early event in atherogenesis. To examine how pre-exposure of monocytes to modified proteins, such as oxLDL, influences their differentiation to macrophages, an in vitro model system using isolated ...
journal_title:Molecular and cellular biochemistry
pub_type: 杂志文章
doi:10.1007/s11010-012-1459-8
更新日期:2013-01-01 00:00:00
abstract::The ability of ANP to inhibit the hydrolysis of phosphoinositides was examined in [3H] myoinositol-labeled intact murine Leydig tumor (MA-10) cells. Arginine vasopressin (AVP) stimulated the formation of inositol monophosphate (IP1), inositol bisphosphate (IP2), and inositol trisphosphate (IP3) both in a time-and dose...
journal_title:Molecular and cellular biochemistry
pub_type: 杂志文章
doi:10.1007/BF00225834
更新日期:1996-05-24 00:00:00
abstract::Surfactants, which provide a hydrophobic environment, may induce an ordered conformation in polypeptides and proteins that contain a sequence with helix-or beta-forming potential. This hypothesis has been illustrated in circular dichroic studies of oligopeptides and short polypeptides. These peptide-surfactant complex...
journal_title:Molecular and cellular biochemistry
pub_type: 杂志文章
doi:10.1007/BF00224754
更新日期:1981-10-30 00:00:00
abstract::The purpose of this study was to investigate the effect of metal-catalyzed oxidation by H(2)O(2) on the structure, oligomerization, and chaperone function of alphaA- and alphaB-crystallins. Recombinant alphaA-and alphaB-crystallins were prepared by expressing them in E. coli and purifying by size-exclusion chromatogra...
journal_title:Molecular and cellular biochemistry
pub_type: 杂志文章
doi:10.1007/s11010-006-9128-4
更新日期:2006-08-01 00:00:00
abstract::A matricellular protein, osteopontin (OPN), is expressed in response to mechanical stress and similar stimuli in the heart, integrates the inter-ECM signal transduction network of component cells, and maintains efficient contractility through quantitative and qualitative control of extracellular matrix (ECM) proteins....
journal_title:Molecular and cellular biochemistry
pub_type: 杂志文章,评审
doi:10.1007/s11010-006-9368-3
更新日期:2007-06-01 00:00:00
abstract::Inactivation of dystrophin gene is the primary cause of Duchenne muscular dystrophy (DMD) in humans and mdx mice. However, the underpinning mechanisms, which govern the pathogenesis of dystrophin-deficient skeletal muscle, remain poorly understood. We have previously reported activation of mitogen-activated protein ki...
journal_title:Molecular and cellular biochemistry
pub_type: 杂志文章
doi:10.1007/s11010-008-9716-6
更新日期:2008-05-01 00:00:00
abstract::Previously, we isolated and characterized the gene encoding the 3'-Nucleotidase/Nuclease (Ld3'NT/NU) from the human pathogen, Leishmania donovani. This unique cell surface enzyme has been shown to be involved in the salvage of host-derived purines, which are essential for the survival of this important protozoan paras...
journal_title:Molecular and cellular biochemistry
pub_type: 杂志文章
doi:10.1023/a:1010809420104
更新日期:2001-04-01 00:00:00
abstract::Alpha-fetoprotein (AFP) for long was known as immunomodulator and tumor marker having multifaceted actions on the activity of normal and transformed cells. In present study, we have investigated the involvement of AFP in regulation of THP-1 cell line invasion and underlying mechanisms. Treatment with human recombinant...
journal_title:Molecular and cellular biochemistry
pub_type: 杂志文章
doi:10.1007/s11010-013-1650-6
更新日期:2013-07-01 00:00:00
abstract::In this study we assessed activities of antioxidant enzymes, lipid peroxidation end-products, and nitric oxide (NO) levels in women with postmenopausal osteoporosis (PMO). Relationship between oxidative stress parameters and NO levels with bone mineral density (BMD) and clinical variables influencing bone mass and hea...
journal_title:Molecular and cellular biochemistry
pub_type: 杂志文章
doi:10.1007/s11010-006-9270-z
更新日期:2007-01-01 00:00:00
abstract::The present study was designed to investigate the possible effects of chronic dichlorvos exposure on the various aspects of calcium homeostasis in rat brain. Chronic dichlorvos administration caused significant rise in the intrasynaptosomal calcium levels. The activity of major calcium expelling enzyme i.e. Ca2+ATPase...
journal_title:Molecular and cellular biochemistry
pub_type: 杂志文章
doi:10.1023/a:1014873031013
更新日期:2002-03-01 00:00:00
abstract::Highly sensitive and specific synthetic substrates were used to quantitate cathepsin B and D activity in peritoneal macrophages in response to stimulation in vivo with mineral oil and thioglycollate. After intraperitoneal instillation of mineral oil the activity of cathepsin B increased significantly (to 15 300 units/...
journal_title:Molecular and cellular biochemistry
pub_type: 杂志文章
doi:10.1007/BF00225928
更新日期:1985-11-01 00:00:00
abstract::Photoreactive probes for the hydrophobic pocket of the liver fatty acid-binding protein, 11-(5'-azido-salicylamido)-undecanoic acid (5' ASU) and its acetyl ester (Ac5' ASU), were synthesized and their interaction with the protein was assessed. Fatty acid-binding proteins are closely related proteins which are abundant...
journal_title:Molecular and cellular biochemistry
pub_type: 杂志文章
doi:10.1007/BF00925980
更新日期:1993-03-10 00:00:00