The human genome is a very complex thing, scientists aren’t even close to figuring it out, and every thing needs to be just right for a “normal” child to be born. If even the smallest gene is changed it could result in a child that has a disorder. These mutations are when the normal DNA sequence of a gene is changed in a way that makes it so a protein encoded by the gene malfunctions. If a protein malfunctions then every cell containing that protein is at risk, and those cells are putting the cells around them at risk, of not being able to do their job, creating a defect in the child.
Mutations can occur because of chance, or they can be passed through generations, these patterns are called inheritance patterns. There are four different types of single gene inheritance patterns, these are autosomal dominant, autosomal recessive, x-linked dominant, and x-linked recessive. The autosomal traits are found on the 22 non-sex determining pairs of chromosomes. The x-linked traits are all found on your x chromosome. The other two types of inheritance patterns are multifactoral inheritance, where several factors create the disorder, and mitochondrial inheritance, where the mitochondria’s function is slowed, or ended.
An example of a genetic disorder is Huntington’s Disease, which is an inherited neurological disorder that causes involuntary movements, severe emotional disturbance, and cognitive decline. The gene that causes Huntington’s is found on chromosome 4 which codes for the protein huntingtin, whose function is unknown. Huntingtin is usually coded with the three letters CAG repeated 11-29 times, but in the defective gene CAG is repeated 40-80 times. Huntington’s is a disease that causes the malfunctioning huntingtin to clump in the brain, most commonly effecting the Basal ganglia and cortex, which control movement, thought, perception, and memory. It also destroys neurological cells. The latest discovery relating to Huntington’s happened while it was being researched at the University of California Irvine; here they found that they could prevent cell death in a fruit fly that carried the gene defect. They believe they’ve found how the mutation alters the chemical pathway to cause the disease.Stem cell research is a hot button issue these days that has the potential to help cure many disorders involving cell death, overgrowth, or malfunction. Stem cells are cells that can be turned into almost any kind of cell, which could help cure those with disorders that cause cell malfunction. Stem cells were first taken from embryos, these embryonic stem cells are why most people are against stem cell research, they believe that it is wrong to create embryos just for their cells and then just get rid of them. However now there is a new type of stem cell found in adults. Adult stem cells are undifferentiated cells among cells that serve a purpose, and these can be programmed for a function. Induced pluripotent stem cells are adult cells that have been returned to an embryonic state and are used for the same function. Stem cell research should be legalized so that people who are suffering from painful and life altering disorders may have the chance to be like everyone else. Stem cell research has they potential to cure those with Huntington’s, by replacing the dead neurological cells in their brains.