Huntington's Disease Research Paper

Huntington’s Disease and Fragile-X Syndrome; The Effects of Insertion Mutation on Human Health What is a mutation? A mutation is a permanent change in a DNA sequence caused by bad genetics or damaged from environmental factors (Swafford 2003-2016). Although there are many negative results of mutations, not all mutations are for the worse. Mutation can occur in somatic (body) cells or gametes (sex) cells. There are several kinds of mutations, but this essay focuses on insertion mutations that occur in gametes. An insertion mutation takes place when there is an addition of a nucleotide in the DNA sequence where it should not be. Insertion is a type of frameshift mutation; therefore the nucleotide addition causes the entire amino acid sequence …show more content…
Symptoms of Huntington’s disease first appear in individuals around the ages of 35-50. First, the disease victim may have what appears to be problems with coordination. At this stage the onset of choreiform movements, or sporadic, jerky muscle contractions, are already taking place. Because the spasms disappear during sleep, not much thought may be given to the otherwise alarming symptoms. Over a few years choreiform movements become far more noticeable as they become more frequent and violent. Around the same time, signs of mental unhealthiness begin to appear. Similar to alzheimer victims, Huntington’s disease recipients develop symptoms such as mood swings, irritability, restlessness, and tiredness. With these symptoms, the Huntington’s disease victim has a high risk of developing dementia, schizophrenia, or bipolar disorder (The Editors of Encyclopaedia Britannica …show more content…
Symptoms of fragile-X syndrome include any reduced cognitive aptitude; this can result in a problem as unextreme and a slight learning impairment, or as extreme as severe mental disability, or mental retardation. Males, who are more harmfully affected by fragile-X syndrome have both a X and a Y chromosome, while females, who are not as dramatically affected, have two X chromosomes. A male who receives a defective X chromosome will almost ultimately be affected by mental retardation. On the other hand, only about ⅓ of females that have the bad gene passed down, are affected with mild learning impairments. However the

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