Genetic Mutations Result In Faulty Proteins

Genetic Mutations Result In Faulty Proteins The DNA sequence codes for a particular gene which is then copied into a protein sequence code. Protein is found in every cell in human body and has a vital role in cell growth and tissue repair. The amino acids are the building blocks of proteins which are arranged in a specific order to determine the proteins shape and function. The incorrect amino acid sequence leads to harmful consequences because it can lead to the formation of faulty proteins which can cause disruption in metabolic and regulatory pathways which cause genetic disorders (1). Genetic mutation is a change in genomic sequence which encodes DNA. It can be either inherited or somatic mutation. Somatic mutations are introduced either during DNA replication or when the DNA repair process fails. Agents which damage DNA are frequent carcinogens. Most carcinogenic agents are mutagens. There are two classes of mutations caused by mutagens. The first class is spontaneous mutations caused by depurination, deamination and demethylation(3). The second class is induced mutations caused by ionizing radiation,chemical mutagens and ultra violet radiation(3). Mutation during DNA replication Before cell divides, cell duplicates its entire DNA sequence. To start DNA replication, the DNA helicase separates the DNA molecule into two strands. Then DNA polymerase copies each strand of DNA in order to create two double-stranded DNA molecules. Somatic mutation occurs when this DNA polymerase makes an error in copying which takes place once every 100,000,000 bases (4). Mutation effects Single base substitution: The consequences of single base substitution mutation depend on the location of the protein which can lead to either silent mutation, missense mutation or a non-sense mutation. Silent mutations are those which dont produce any change in an amino acid sequence of a protein. They occur in that region that either doesnt code for a protein or doesnt alter the final sequence of amino acid chain. For example GCA codon turns into GCG codon as in result of single nucleotide replacement because both GCA and GCG codons mean arginine in mRNA (8). Missense mutations involve a change in a single nucleotide to cause substitution of a different amino acid. This can result into a non-functional protein. Sickle cell anemia is an example of missense mutation where CTC in the DNA sense strand specifies glutamate residue get altered with GUG in the mRNA which results in a Valine residue in the protein causing sickle-cell anemia (8). Non-sense mutations are those which results in a premature stop codon leading to the formation of a non-functional protein. An example for non-sense mutation is a single nucleotide replacement from C to T in codon CAG which forms a stop codon TAG. This incorrect sequence causes the shortening of protein (8). Frameshift mutation: This mutation is the result of an insertion or a deletion of one or more nucleotides from the DNA sequence but not in multiples of three because bases in set of three forms a codon which provides the code for an amino acid sequence of the protein. So as DNA polymerase read the triplet nature of codon so an insertion or a deletion can disrupt its reading frame which results into a completely different translation done by the DNA polymerase (8+6). Chromosome mutation: Any change either in structure or arrangement of chromosomes is a chromosome mutation which frequently occurs in meiosis during crossing over. The different types of chromosome mutation are:- Translocation: In this mutation, a piece of one chromosome gets transferred to a non-homologous chromosome. For example when translocation between chromosomes 9 and 22 takes place, an abnormal gene forms which codes for an abnormal faulty protein resulting the development of leukaemia (8). Inversion: During this mutation, a DNA region on a chromosome flips its orientation leading the formation of an abnormal gene which then codes for a faulty abnormal protein. Deletion: In this mutation, a chromosome section gets deleted which results in the loss of genes (6). Duplication: During this mutation, some genes get duplicate and get read twice by the DNA polymerase on the same chromosome resulting in the formation of a faulty abnormal protein (6). Non-disjunction: This is when chromosomes dont separate successfully to opposite poles at anaphase stage during meiosis which allows the presence of an extra chromosome in one of the daughter cells. Downs syndrome is an example of non-disjunction which occurs in chromosome 21 of a human egg cell (8). Removal of faulty proteins In eukaryotic cells, faulty proteins are recognized and degraded very rapidly in cells to prevent any harmful consequences. The two major faulty protein destruction pathways are:- Ubiquitin-proteasome pathway for faulty intracellular proteins: In the case of formation of faulty proteins which are defective get ejected into the proteasome from the endoplasmic reticulum through channels called retrotranslocons. Proteasome is a large multi-catalytic protein complex found in all eukaryotes which is located in nucleus and cytoplasm. It is responsible to degrade faulty intracellular proteins through proteolysis(2). The enzymes which carry out proteolysis are known as proteases. Those intracellular proteins which need to go under degradation get tagged with another small protein called ubiquitin(2). Ubiquitin binds to the amino group of the side chain of a lysine residue. This tagging process is catalyzed by ubiquitin ligase. Once the protein gets tagged,a signal gets released to other ligases allowing more ubiquitin molecules to attach to form a poly-ubiquitin chain. Poly-ubiquitin chain then bound by the 26s proteasome complex which leads to the degradation of tagged protein(7). Ubiquitin does get released which that can be reused in next cycle. However ATP is used for the attachment of ubiquitin and for the degradation of tagged proteins (5). Lysosomal proteolysis for faulty extracellular proteins: Lysosomes are membrane-enclosed cellular organelles in animals containing digestive enzymes and proteases. They have important roles in cell metabolism including the digestion of extracellular proteins taken up through endocytosis. So during this protein degradation pathway, the protein is uptaken by lysosomes through the formation of vesicles derived from endoplasmic reticulum called autophagosomes. Then these autophagosomes fuse with lysosomes so in result the digestive lysosomal enzymes digest their contents (5).

Hamlet Essay -- essays research papers

Contrast Between Hamlet, Laertes And Fortinbras Hamlet (prince of Denmark) can be greatly compared to Laertes (son of a noble), and Fortinbras (prince of Norway) in the play. They all are very similar but yet different at the same time. They all had love and respect for their fathers and felt the need to avenge their deaths, which all were brutally killed. All three believed that the murderers had dishonoured their fathers as well as themselves. They all reacted and took different approaches in attempt to restore honour in their families. Hamlet seems to be the one who lets things dwell in his mind before taking any action or making an attempt at trying to get on with his life. After the death of his father he becomes depressed and gradually becomes enraged with his mother’s immediate marriage to his uncle Claudius. He was lead to believe his father died of natural cause but he became aware of the murderer when his father’s ghost appeared to him. When Hamlet learns the truth of his father’s murder, he cries, but promises action, though he delivers none. He says â€Å"Haste me to know’t, that I, with wings as swift as meditation or the thoughts of love, may sweep to my revenge.† (Act 1, Sc. 5, 29-31). At the end of the scene he says â€Å"The time is out of joint: O cursed spite, that ever I was born to set it right!† (Act 1, Sc. 5, 188-189). This shows that he is no longer in such a rush to avenge his father’s death by killing his uncle Claudius. The appearance of...

Eagle Scout Essay

  Hello everybody. To start off I would like to say thank you to everyone here for coming, because if it wasn’t for all of you this day wouldn’t be so special. I would like to give a special thanks to my parents for getting me involved in boy scouts, mr.mac, mr.beteyyman, mr.deangles, and all the other leaders for leading my troop, and the scouts that helped me complete my Eagle Scout project. From the start to the end boy Scouts has shaped me as the person that I am today, and without Boy Scouts I wouldn’t be the person that I am. Not knowing where Scouting would lead me, I joined the troop due to many interests such as having fun. It all started when I was about 7 years old and walked into the elks lodge to have my first meeting as a tiger scout. From tiger scouts on I decided that I really liked the scouting experience and would continue on the whole journey. Racing boats in the rain gutter regatta, and racing cars in the pine wood derby were just a few of t he events early on. Time had passed earning belt loops, camping some, and learning wilderness survival tips, and before I knew it Webloes 2 was completed and I had a decision to make. I decided that I would cross over to boy Scouts and shoot for the goal of my Eagle Scout. Anxiously waiting at the table for my name to called, a member from the order of the arrow dressed up as an American Indian came over to me and walked me to the front of the building and over the bridge. I was then welcomed by the boy Scouts and given a troop 2540 handkerchief and hat. I decided that I would be one of the kids to go to all the meeting, trips, and scouting events.   One of my very first memories was the camping trip to rickets Glenn in Pennsylvania. The scenery of waterfalls and hiking through the wilderness hit me immediately that I loved the idea of camping and couldn’t wait to go on the next trip. As time progressed learning how to cook, pitch tents, tie knots, first aid, and physical fitness, I was moving through the ranks very quickly. Some events such as community service taught me to always give back to the community, and to take leadership roles in the troop showed me how to be a good leaders and not a follower. My most memorable camping trips were the 2 out of the 4 high adventure trips that I completed. The National Jamboree in Arlington Virginia celebrated the 100 years of scouting, and the most memorable part of this trip was getting Shaun Whites autograph. Hiking through the wilderness at Philmont Scout Reservation was an amazing espicially hiking up mt.baldy and catching mini bears in our bear bags to  pass time at cam p. Boy Scouts has meant so much to me and has helped me discover what I like to do through the 27 merit badges that I earned over the years. Getting my eagle scout was a long and memorable journey and has helped me become who I am today. Thank you

MAnaging Conflict Essay - 618 Words

Managing Conflict What is conflict? Conflict is a natural disagreement resulting from individuals or groups that differ in attitudes, beliefs, values or needs. It can also originate from past rivalries and personality differences. Other causes of conflict include trying to negotiate before the timing is right or before needed information is available. Causes of conflict. 1.nbsp;nbsp;nbsp;nbsp;nbsp;Lack of communication. There is a lack of communications. Failure to share ideas and feelings (between wife and husband for example) allows the other person to quot;fill in the gap.quot; We quot;read inquot; what we think the other person will say or anticipate how the other person will respond. Then, we often suspect negative things†¦show more content†¦Lack of agreement about quot;whos in chargequot; or quot;how we are going to get things donequot; in any situation can be a source of conflict. For example, if one parent in a family expects democratic decision-making (all members have input) and the other wants to be the boss (do it my way), they may not be able to resolve honest differences of opinion. Then when differences exist, they become sidetracked into a hassle over who will decide or whose opinion is going to be accepted as the quot;rightquot; one. The resulting conflict becomes a quot;win-losequot; struggle. 4. Change causes disequilibrium. While change is considered to be a quot;givenquot; for people working and living together, another quot;givenquot; is that people prefer secure, predictable patterned responses to the unknown. When changes occur abruptly and unpredictably, conflict may follow (e.g. The wife comes home from her college class one night and says quot;I want a divorce.quot;). Forces may have been at work for a long time to cause such a change, but it appears suddenly and provokes anger, anxiety and confusion. 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