A Complete Absence of Missense Mutation in Myosin Regulatory and Essential Light Chain Genes of South Indian Hypertrophic and Dilated Cardiomyopathies

Cardiology ◽  
2018 ◽  
Vol 141 (3) ◽  
pp. 156-166
Author(s):  
Deepa Selvi Rani ◽  
Pratibha Nallari ◽  
Jhansi Rani ◽  
Sheikh Nizamuddin ◽  
Thulasamma Seelamneni ◽  
...  

Background: Myosin is a hexameric contractile protein composed of 2 heavy chains associated with 4 light chains of 2 distinct classes – 2 regulatory light chains (MYL2) and 2 essential light chains (MYL3). The myosin light chains stabilize the long alpha helical neck of the myosin head and regulate the myosin ATPase activities. Objectives: Mutations in MYL2 and MYL3 are reported to be associated with cardiomyopathies. However, there is no study available on these genes in Indian cardiomyopathies, and therefore we planned to study them. Method: For the first time we sequenced MYL2 and MYL3 genes in a total of 248 clinically well-characterized cardiomyopathies consisting of 101 hypertrophic and 147 dilated cases along with 207 healthy controls from south India. Results: Our study revealed a total of 10 variations – 7 in MYL2 and 3 in MYL3, of which 3 are novel variations observed exclusively in cases. However, the 15 causative missense mutations previously reported are totally absent in our study, which showed that the sequences of MYL2 and MYL3 are highly conserved in Indian cases/controls. Conclusions: MYL2 and MYL3 mutations are rare and the least cause of cardiomyopathies in Indians.

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Liqun Wang ◽  
Qiang Li ◽  
Songwei Ni ◽  
Youhua Huang ◽  
Jingguang Wei ◽  
...  

Abstract Clathrins, composed of clathrin heavy chains (CHCs) and clathrin light chains (CLCs), are usually hijacked by viruses for infection. However, the role of CLCs, especially in regulating fish virus infection, remains poorly understood. Here, two isoforms of CLCs were cloned from the red-spotted grouper (Epinephelus akaara) (EaCLCa and EaCLCb). Both EaCLC transcripts were expressed in all examined tissues, and the expression of EaCLCa was much higher than that of EaCLCb. Over-expressing EaCLCa-W119R mutant significantly reduced Singapore grouper iridovirus (SGIV) infectivity. However, no effect of EaCLCb-W122R on SGIV infection was observed. The detailed steps were further studied, mainly including virus attachment, entry and the following transport to early endosomes. EaCLCa-W119R mutant notably inhibited internalization of SGIV particles with no effect on SGIV attachment. Furthermore, EaCLCa-W119R mutant obviously impaired the delivery of SGIV to early endosomes after virus internalization. In addition, the EaCLCa-W119R mutant markedly reduced the colocalization of SGIV and actin. However, EaCLCb is not required for such events during SGIV infection. Taken together, these results demonstrate for the first time that EaCLCa and EaCLCb exerted different impacts on iridovirus infection, providing a better understanding of the mechanisms of SGIV infection and opportunities for the design of new antiviral strategies.


Cells ◽  
2021 ◽  
Vol 10 (2) ◽  
pp. 451
Author(s):  
Markus Mukenhirn ◽  
Francesco Muraca ◽  
Delia Bucher ◽  
Edgar Asberger ◽  
Elisa Cappio Barazzone ◽  
...  

One of the most fundamental processes of the cell is the uptake of molecules from the surrounding environment. Clathrin-mediated endocytosis (CME) is the best-described uptake pathway and regulates nutrient uptake, protein and lipid turnover at the plasma membrane (PM), cell signaling, cell motility and cell polarity. The main protein in CME is clathrin, which assembles as a triskelion-looking building block made of three clathrin heavy chains and three clathrin light chains. Compared to clathrin heavy chains (CHCs), the role of the two isoforms of clathrin light chains (CLCA and CLCB) is poorly understood. Here, we confirm that the simultaneous deletion of both CLCA/B causes abnormal actin structures at the ventral PM and we describe them, for the first time, as functional invadopodia rather than disorganized actin-cytoskeleton assembly sites. Their identification is based on the occurrence of common invadopodia markers as well as functional invadopodia activity characterized by an increased local proteolytic activity of the extracellular matrix proteins. We demonstrate that CLCA/B deletion impacts the intracellular trafficking and recovery of the matrix metalloproteinase 14 (MMP14) leading to its accumulation at the plasma membrane and induction of invadopodia formation. Importantly, we show that invadopodia formation can be prevented by depletion of MMP14. As such, we propose that CLCA/B regulate invadopodia formation by regulating MMP14 delivery to the plasma membrane.


Author(s):  
Donald A. Winkelmann

The primary role of the interaction of actin and myosin is the generation of force and motion as a direct consequence of the cyclic interaction of myosin crossbridges with actin filaments. Myosin is composed of six polypeptides: two heavy chains of molecular weight 220,000 daltons and two pairs of light chains of molecular weight 17,000-23,000. The C-terminal portions of the myosin heavy chains associate to form an α-helical coiled-coil rod which is responsible for myosin filament formation. The N-terminal portion of each heavy chain associates with two different light chains to form a globular head that binds actin and hydrolyses ATP. Myosin can be fragmented by limited proteolysis into several structural and functional domains. It has recently been demonstrated using an in vitro movement assay that the globular head domain, subfragment-1, is sufficient to cause sliding movement of actin filaments.The discovery of conditions for crystallization of the myosin subfragment-1 (S1) has led to a systematic analysis of S1 structure by x-ray crystallography and electron microscopy. Image analysis of electron micrographs of thin sections of small S1 crystals has been used to determine the structure of S1 in the crystal lattice.


Author(s):  
Shanmugapriya K. ◽  
T. Murugan ◽  
Thayumanavan Tha

Medicinal plants plays a significant role in the pharmaceutical industry. In present scenario, the need is to explore, identify and utilize this new medicinal plant on one hand and, on the other, to help conserve the existing but threatened species of rare medicinal plant.This present research work was carry out for the first time in South India to analyse and estimate the biochemical profiles of various extracts of fresh parts of Gnaphalium polycaulon pers., plant. The biochemical composition such as total carbohydrates, total proteins, total lipids, total phenols, cholesterol, total chlorophylls and reducing sugar, sterols were estimated using the standard procedure in fresh plant material.The biochemical analysis of Gnaphalium polycaulon plant showed the presence of various phytochemicals. The results of the present study supplement the usage of the studied plant which possesses several bioactive compounds and used as food and also as medicine.The results of present studies demonstrated that Gnaphalium polycaulon plant could be a sourceof valuable information and a guideline for the scientists, researchers in India and also all over the world


1991 ◽  
Vol 10 (2) ◽  
pp. 97-105 ◽  
Author(s):  
Douglas L. Feinstein ◽  
Michele Durand ◽  
Robert J. Milner

2012 ◽  
Vol 13 (1) ◽  
pp. 80-84 ◽  
Author(s):  
G Anil Kumar ◽  
Saibel Farishta ◽  
G Baiju ◽  
VK Taneja ◽  
RC Minocha ◽  
...  

ABSTRACT The present study was undertaken to assess the skeletal craniofacial asymmetry in South Indian population by a posteroanterior cephalometric radiographic method. The skeletal craniofacial structures on one side of the face were compared with that of the other, by drawing various triangles representing different craniofacial regions. The sample consisted of 60 subjects (30 males and 30 females) aged between 18 to 25 years, who were mainly dental college students from South India. Overall 52 X-rays were obtained, with four errors each in the male and the female groups. The results revealed that the total facial structures in the South Indian population were larger on the left side (statistically insignificant). The cranial base area exhibited a greater degree of asymmetry than any other component area of the face, which might be due to the inaccuracy at the condylar point. How to cite this article Taneja VK, Kumar GA, Farishta S, Minocha RC, Baiju G, Gopal D. An Assessment of Skeletal Craniofacial Asymmetry in South Indian Population. J Contemp Dent Pract 2012;13(1):80-84.


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