Nonsense mutation

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    One of these is Rett syndrome, which is an X-linked neurodevelopmental disorder. Children with Rett’s seem to develop normally up unto 6-18 months and then there is regression that is characterized by a loss of motor skills (Percy, 2016). A genetic basis for Rett’s was discovered in 1999 which showed that a mutation in methyl-CpG binding protein 2 (MECP2) was to blame for this disorder (Chahrour & Zoghbi, 2007). In almost 95% of cases mutations in MECP2 are found with most arising from sporadic de novo, or new, mutations. Approximately 70% of all MECP2 mutation are either missense or nonsense, a mutation of nucleotides that leads to premature truncation of the gene by means of a premature stop codon, mutations. Missense mutations are mutations in one nucleotide that in turn affects the codon which then codes for a different amino acid than what is originally supposed to be there. Whereas, nonsense mutations are mutations of nucleotides that leads to premature truncation of the gene by means of a premature stop codon. Missense mutations tend to cause a less severe phenotype then early truncation of the gene. While the genetic factors have now been discovered, there are also neurological factors that come into play. Reduction in the size of the brain and neurons can be seen in most Rett cases. Autopsy’s show that this reduction in brain weight and volume is…

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    Essay On APTT Meeting

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    table the game of Blending Words BINGO along with BINGO chips. For this game, each person gets their own game board along with a handful of calling cards (we just sorted out the cards so each person got nearly the same amount). The cards simply say, “Find the picture that says c//a//t” while the game board only has pictures. Some of the pictures are a little more complicated, however, so it does come with a cheat sheet for all of the pictures. During this time Ms. Crawford walked around the…

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    Gfap Gene Essay

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    D128N Mutation in GFAP gene As it has already been studied that mutation occur at various locations on the GFAP gene, it depends on the specific point where it occurs that could result in severe consequential neurodegeneration. The mutations on the GFAP gene has already contributed for about 96% of all the cases of Alexander’s. Various other side effects that could be seen with the onset of Alexzander’s disease are GFAP aggregation, astrocyte degradation, glial injury etc. This specific…

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    The Rett Syndrome

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    2007). The mutations render the transcriptional repressor dysfunctional, and therefore MECP2 is not able to ‘turn off’ genes that are normally turned off during development. This leads to an imbalance in gene expression in the brain, which can have vast neuron impacts and can reduce overall neuronal activity (Chahrour, M., Huda, Z. 2007). Specifically, a study found a decrease in the functional units of the brain, reduced dendrite branching, and shorted and sparse dendrites in the frontal cortex…

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    DNA mutations are in other words DNA changes. Any changes in DNA can be from spontaneous mutation, in order to adapt to the continuous changing environment, or induced mutation, which it is caused from dangerous exposures such as to carcinogens or radiation. Moreover, three main steps a DNA chain goes through to build proteins are, DNA to mRNA (messenger deoxyribonucleic acid), and then the end result is protein. Furthermore, DNA changes, in which can occur in a single or multiple nucleotides on…

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    Gene Mutations Gene mutation is a permanent change in the DNA sequence that makes up a gene. Mutations are affected by the change in the DNA sequence. There can be many different types of mutations. (Department of Genetics, Stanford School of Medicine, Para I) Some examples are point mutations, missense mutation, nonsense mutation, frame shift mutation, silent mutation, deletion, insertion, and duplication. (US National Library of Medicine) These mutations can either occur naturally or actually…

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    tool allows DNA changes to be permitted and for mutations to be fixed easily after an enzyme latches itself onto a specific location in the genome with the assistance of a guide RNA molecule. After a RNA molecule discovers a DNA sequence that fits the coding of the guide RNA, it proceeds to separate both of the double helix 's strands at the specific site. In response, the cells attempt to heal the broken area by either adding or removing DNA cells know as bases, which…

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    The four forces of evolution are mutation, gene flow, genetic drift, and natural selection. Mutation is when a change happens during replication of DNA. It is when the copy of the original DNA is not replicated completely correctly. There are multiple types of mutation including substitution, deletion, duplication, insertion, nonsense mutations, missense mutation, frameshift, and repeat expansion. Another force of evolution, gene flow, also called migration is exactly that.…

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    for making proteins that are involved in repairing damaged DNA. XPB has the same type of mutation as XPA however it is an essential subunit of a 9 unit general transcription factor IIH (TFIIH) complex. The TFIIH complex helps repair damaged DNA therefore mutation in XPB means the TFIIH complex doesn’t form properly hence cannot do its job. In XPC there is a single base substitution on the third chromosome this causes a missense mutation which produces inactivated XPC protein this is crucial…

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    Werner's Syndrome Analysis

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    multiple miscarriages.9 Menopause is still accounted for in women with WS, but they will experience it earlier than the usual age.9 For males, as they age with WS, their sperm count and quality will decrease, but they are still able to procreate, only at a much younger age.9 Diagnosis This disorder is autosomal recessive, meaning that both parents must carry the mutation of the gene to be activated in the disease.4 To be diagnosed with WS, one must first be showing obvious symptoms of the…

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