Sandbox GGC4: Difference between revisions
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'''Amyloidosis''' | '''Amyloidosis''' | ||
Rare disease caused from abnormal protein amyloid is built up in areas of the heart, kidneys, liver, and other organs. Amyloid, not normally found in the body, is produced from mutation of APOA1 gene that can be caused by 13 of 50 known variants of apolipoprotein A-1 gene between residues 50 to 93 and 170 to 178. Three of mutations are known to cause gene variations that lead to two different frameshifts at amino acids asparagine and alanine (p.Asn74fs and p.Ala154fs) and single amino acid exchange (p.Leu170Pro). | Rare disease caused from abnormal protein amyloid is built up in areas of the heart, kidneys, liver, and other organs. Amyloid, not normally found in the body, is produced from mutation of APOA1 gene that can be caused by 13 of 50 known variants of apolipoprotein A-1 gene between residues 50 to 93 and 170 to 178. Three of mutations are known to cause gene variations that lead to two different frameshifts at amino acids asparagine and alanine (p.Asn74fs and p.Ala154fs) and single amino acid exchange (p.Leu170Pro). <ref>Eriksson, M., Schönland, S., Yumlu, S., Hegenbart, U., Von Hutten, H., Gioeva, Z., . . . Röcken, C. (2009, May). Hereditary apolipoprotein AI-associated amyloidosis in surgical pathology specimens: Identification of three novel mutations in the APOA1 gene. Retrieved November 15, 2020, from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2671344/</ref> | ||
Symptoms of amyloidosis is not evident until disease is more progressed. Range of symptoms are also dependent on organ(s) effected that include swelling in legs and ankles, enlarged tongue, shortness of breath, and/or skin conditions such as patches from easily bruising. <ref>Amyloidosis. (2020, March 14). Retrieved November 15, 2020, from https://www.mayoclinic.org/diseases-conditions/amyloidosis/symptoms-causes/syc-20353178</ref> | |||
'''Alzheimer’s''' | '''Alzheimer’s''' | ||
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13. McConnell, J. (2019, January 17). Tangier Disease. Retrieved November 15, 2020, from https://www.cancertherapyadvisor.com/home/decision-support-in-medicine/labmed/tangier-disease/<references/> | 13. McConnell, J. (2019, January 17). Tangier Disease. Retrieved November 15, 2020, from https://www.cancertherapyadvisor.com/home/decision-support-in-medicine/labmed/tangier-disease/<references/> | ||
14. Eriksson, M., Schönland, S., Yumlu, S., Hegenbart, U., Von Hutten, H., Gioeva, Z., . . . Röcken, C. (2009, May). Hereditary apolipoprotein AI-associated amyloidosis in surgical pathology specimens: Identification of three novel mutations in the APOA1 gene. Retrieved November 15, 2020, from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2671344/<references/> | |||
15.Amyloidosis. (2020, March 14). Retrieved November 15, 2020, from https://www.mayoclinic.org/diseases-conditions/amyloidosis/symptoms-causes/syc-20353178<references/> | |||
