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History Of Opitz Syndrome : A Disease Characterized By A Defect Along The Ventral Midline Of The Human Body

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Opitz syndrome is a disease characterized by a defect along the ventral midline of the human body. Some of these abnormalities include a cleft lip, heart defects, wide-spaced eyes (hypertelerism), laryngeal cleft, agenesis of the corpus callosum, and hypospadias. An important irregularity in patients is the effect disrupted proteins have on the corpus colloseum. The corpus colloseum is a neuronal component that separates the two halves of the brain. This protein is imperative because it controls MID-1 or the midline. The MID-1 protein also forms homodimers, which associate with microtubules in the cytoplasm, especially during fetal development. Therefore, MID-1 is involved in formation of multiprotein structures, acting as anchor points to …show more content…

I found this topic interesting and informative because it defined the multiple ways that a protein could be affected in the body and lead to a disease. While some people find biochemistry as a whole intimidating, I find it fascinating that pathways and complexes can interconnect and link. Interconnections can cause more than one result. This concept helped me understand how a disease, such as Opitz syndrome, is so challenging to cure. Curing the effects of B-box 1 or 2 may or may not lead to realignment of microtubules. There could be downstream effects that take place in other areas. As a result, hard work and a plethora of experimentation is necessary to be able to isolate pathways and cure this troubling disease.

Question 2: (29 pts) In the article, “Effect of an Ala81His Mutation on the Met80 Loop Dynamics of Iso-1-cytochrome c,” figure 1 includes a portion of the protein sequence.
a. (5 pts) What is the difference between using the terms, identity and homology, when comparing protein sequences.

• In terms of comparing protein sequences, “identity” means that the protein sequences have identical amino acids in their sequence. The percent of identical amino acids indicates the percent of “identity” between amino acids.
• In terms of comparing protein sequences, “homologous” means similarity between protein sequences. The proteins may be even more homologous because of similar – but not identical – residues. Often, homology is

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