Showing posts with label mutations. Show all posts
Showing posts with label mutations. Show all posts

Wednesday, 19 February 2025

How Altered Folding Enables Protein Stability in Aqueous Environments | Chapter 5 | Chemistry and Biochemistry: Research Progress Vol. 3

 Knowledge of the spatial structure of a protein is essential for determining its biological activity and critical for the design of drugs using In Silico techniques. Despite the significant advances in protein structure prediction based on a specific amino acid sequence achieved by the AlphaFold technique based on artificial intelligence through the introduction of artificial intelligence (deep learning) methods in 3D structure prediction methodology, the question concerning the mechanism of the folding process remains unanswered. In the current work, achieving an appropriate ordering of the hydrophobicity distribution in the 3D structure was identified as a determining factor for protein structuring. This paper discusses the structuring process as dependent on two factors: external (environment like water or membrane for example) and internal force field (non-bonding interaction in protein body). The objects of the analysis are proteins with a single mutation showing a different secondary structure and an example of the chameleon sequence, where certain segments with an identical sequence adopt different forms of secondary structure. The paper presents a theoretical model with appreciation to Protein Data Bank and ChSeq databases. The analysis used the fuzzy oil drop model in its modified version (FOD-M). The analysis was performed with In Silico techniques using software of open access status. The importance of the environmental contribution was demonstrated by four proteins with targeted single mutations leading to a change in secondary structure from helical to β. It has also been demonstrated in the example of chameleon sequences with segments of 7 amino acids of identical sequence take adopt different forms of secondary structure. The role of environmental conditions in the folding process was demonstrated quantitatively with a mathematical function, the optimization of which should lead to a structure with a defined biological function. The application of the discussed model introduces the possibility of controlling the folding process. The analysis supports the hypothesis of the folding process as the effect of consensus between the internal force field (non-bonding interaction in the protein body) and external force field which directs the process toward the structure appropriate for environment specificity (water/membrane).

 

Author (s) Details

 

Roterman I
Department of Bioinformatics and Telemedicine, Jagiellonian University – Medical College, 30-688 Krakow, Medyczna 7, Poland.

 

Dulak D
ABB Business Services Sp. z o.o., ul. Zeganska 1, 04-713 Warszawa, Poland.

 

Slupina M
ALSTOM ZWUS Sp. z o.o., Modelarska 12, 40-142, Katowice, Poland.

 

Stapor K
Department of Applied Informatics, Silesian University of Technology, Gliwice, Poland.

 

Konieczny L
Chair of Medical Biochemistry, Jagiellonian University – Medical College, 31-034 Krakow, Kopernika 7, Poland.

 

Please see the book here:- https://doi.org/10.9734/bpi/cbrp/v3/4436

Wednesday, 16 August 2023

The Impact of Mutations: The Future of Cancer | Chapter 4 | Advanced Research in Biological Science Vol. 3

 Can malignancy be predicted early? Why are crowd born color blind? How are mutations passed on? From inability to distinguish one or more colors, muscular dystrophy, and tumor to even the polymorphism that happens to cause blue eyes, mutations are a crucial field to understand in the experimental community. Mutations are alterations in hereditary sequences, such as when the body codes for the wrong deoxyribonucleic acid, whether it develop an environmental determinant or an intrinsic factor. In this item, we will explain by what method cancerous mutations work, and address potential habits to improve cancer disease and treatment from now on.

Author(s) Details:

Preet Sharma,
University of North Texas, Denton, Texas, USA.

Please see the link here: https://stm.bookpi.org/ARBS-V3/article/view/11603

Saturday, 22 July 2023

Resistance Breeding in Ornamental Plants: An Overview | Chapter 5 | Emerging Issues in Agricultural Sciences Vol. 5

 This branch highlights Resistance rearing in ornamental plants. Use of resistant types leads to reduction in the use of pesticides that in turn results in reduction of loud noises and health hazards induced using pesticides. Moreover, genetic opposition protects natural opponents of insect pest that are killed by insecticides. A order of studies have been transported for the identification and cloning of genes fit increasing fortitude to environmental stresses like drought, frosty, heat, salinity, metal toxicity, hypoxia, and UV-B dissemination. Somaclonal variation has contributed to the incident of abiotic stress resistant types in major crops. Mutation techniques containing transposon mutagenesis have made to the understanding of the microscopic basis of the plant stress response established the information assembled from the Arabidopsis and other model studies. Other methods used to develop new genotypes tolerant to cold, dryness and salt are expansive distant hybridization, In-vitro mutagenesis and alteration of genetic material. Breeding for biotic stress opposition deals with defense systems and strategies that cover host plants against pests and pathogens, inheritance of opposition genes and durable influence of resistance genes.

Author(s) Details:

Tulipa De,
Uttar Banga Krishi Viswavidyalaya, Pundibari, Cooch Behar, West Bengal, India.

Achyuta Basak,
Uttar Banga Krishi Viswavidyalaya, Pundibari, Cooch Behar, West Bengal, India.

L. C. De,
ICAR-National Research Centre for Orchids, Pakyong, Sikkim, India.

Please see the link here: https://stm.bookpi.org/EIAS-V5/article/view/11138

Sunday, 26 February 2023

Study about Model Independent Genetic Mutations through Trends in Increase in Entropy | Chapter 6 | New Frontiers in Physical Science Research Vol. 8

 The present study will argue the statistical physics of model liberated mutations. We will show that the entropy of a profitable mutation and a abandoned mutation is various from the entropic aspects and the range at which point the entropy of two together types of mutations lie. A mutation is characterised by a change in the hereditary sequence. A alone nucleotide base, which serves as the component of DNA, can be altered by a mutation to another nucleotide base. Larger mutations that influence numerous genes on a deoxyribonucleic acid are possible. We have secondhand statistical physics to outline the partition function of an ensemble. Based on the partition function we have expressed by virtue of what to calculate material quantities such as average strength and deterioration.The entropy of all processes increases. This is real even for biological arrangements. We have shown the distinctness between the deterioration of a successful metamorphosis and a failed metamorphosis.We have shown by what method the entropy of a favorable mutation clashes from that of a failed metamorphosis. This opens up future research opportunities place we can apply this to distinguishing biological wholes. Our future work is to study a distinguishing type of mutation and visualize how the fundamentals of statistical and thermodynamical physics define the mutations from an entropy understanding.

Author(s) Details:

Preet Sharma,
Non-Linear Science Research Group, Center for Theoretical Research, Midwestern State University, Wichita Falls, USA.

Please see the link here: https://stm.bookpi.org/NFPSR-V8/article/view/9688

Monday, 6 February 2023

Bioinformatics Approach for the Selection of Single Nucleotide Polymorphisms of Genes| Chapter 5 | Cutting Edge Research in Biology Vol. 4

 The aim of the phase search out review the importance in silica study of genes utilizing bioinformatics finishes so concerning investigate the possible influence of mutations of these genes in connecting the pathogenesis of differing ailment. Understanding the microscopic supports of a protein's function may be attainable accompanying information about the native building of the protein. The distinctness between proteins bearing tentatively characterised constructions and those outside known makeups is swelling in the postgenomics age. An array of robotic methods known as bioinformatics finishes that conclude the form of a protein from allure amino acid order have emerged to handle the deluge of dossier. These bioinformatics forms offer exploratory biologists a group of cutting-edge, fully checked, convenient computational forms for protein makeup prediction that will aid in the understanding of their judgments and the attentive design of new experiments.It maybe decided strongly that damaging belongings of mutations on genes in addition to their lowered balance as predicted apiece bioinformatics forms grant permission influence the pathobiology of afflictions.

Author(s) Details:

Usha Adiga,
Department of Biochemistry, Nitte-DU, KS Hegde Medical Academy, Mangalore, India.

Shreyas Adiga,
BTech Computer Science Dual Degree Program, IIIT, Hyderabad, India.

Tirthal Rai,
Department of Biochemistry, Nitte-DU, KS Hegde Medical Academy, Mangalore, India.

Neha Martin Honnalli,
Department of Biochemistry, Nitte-DU, KS Hegde Medical Academy, Mangalore, India.

Please see the link here: https://stm.bookpi.org/CERB-V4/article/view/9268

Wednesday, 11 August 2021

Molecular Analysis of CYP21A2 Gene Mutations among Congenital Adrenal Hyperplasia Patients in Iraq | Chapter 9 | Challenges in Disease and Health Research Vol. 10

 A category of autosomal recessive illnesses known as congenital adrenal hyperplasia. 21-hydroxylase insufficiency is the most common. Iraq has yet to report on the analysis of CYP21A2 gene mutations. The goal of this study is to look at the range and frequency of CYP21A2 mutations in Iraqi CAH patients. From September 2014 to June 2015, sixty-two children were recruited from the Pediatric Endocrine Consultation Clinic at the Children Welfare Teaching Hospital in Baghdad, Iraq. Their ages ranged from one day to fifteen years. Salt wasting, simple virilization, or pseudoprecocious puberty were all symptoms. For instances with ambiguous genitalia, a cytogenetic analysis was carried out. The CYP21A2 gene has been studied at the molecular level. >50% of significant gene deletions/conversions are caused by mutations. Patients with mutations were detected in 42 (67.7%) of cases; 31 (50%) were homozygotes, 9 (14.5%) were heterozygotes, and 2 (3.2%) were compound heterozygotes with three mutations, while 20 (32.3%) had none of the mutations evaluated. Large gene deletions/conversions were the most common mutations, with 12 (19.4%) patients having them, followed by I2Splice and Q318X with 8 (12.9%) patients each, I172N with 5 (8.1%) patients, and V281L with 4 (6.5%) patients. Del 8 bp, P453S, and R483P were all discovered in one sample (1.6 percent ) In two cases, complicated alleles were discovered (3.2 percent ). There were no point mutations found in any of the patients (P30L, Cluster E6, L307 frameshift, and R356W). Finally, gene deletions/conversions and 7 point mutations were found in varied amounts, with the former being the most common, which is consistent with what has been reported in other regions.

Author (S) Details

Dr. Ruqayah G. Y. Al-Obaidi
Genetic Counseling Clinic and Genetics Laboratory, The Teaching Laboratories, Medical City, Baghdad, Iraq.

Assist. Professor Dr. Bassam
Department of Pathology, College of Medicine, University of Baghdad, Baghdad, Iraq.

Professor Dr. Munib Ahmed K. AlZubaidi
Department of Pediatrics, College of Medicine, University of Baghdad and Pediatric Endocrine Consultation Clinic, Children Welfare Hospital, Baghdad, Iraq.

Dr. Christian Oberkanins
ViennaLab Diagnostics GmbH, Gaudenzdorfer Guertel 43-45, 1120 Vienna, Austria.

Stefan Németh
ViennaLab Diagnostics GmbH, Gaudenzdorfer Guertel 43-45, 1120 Vienna, Austria.

Yusra G. Y. Al-Obaidi
National Center of Hematology, Al-Mustansiriya University, Baghdad, Iraq.

View Book :- https://stm.bookpi.org/CDHR-V10/article/view/2550