Sandbox GGC6
From Proteopedia
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==Fibrinogen alpha chain== | ==Fibrinogen alpha chain== | ||
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| - | + | Fibrinogen is a protein produced by the liver which can help control bleeding by formation of blood clots. | |
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== Function == | == Function == | ||
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'''Congenital afibrinogenemia (CAFBN)''' | '''Congenital afibrinogenemia (CAFBN)''' | ||
| - | This is an inherited blood disorder where the blood does not clot normally. This disease is caused by truncating | + | This is an inherited blood disorder where the blood does not clot normally. This disease is caused by truncating mutation by the complete absence of fibrinogen. <ref>doi: 10.1160/TH14-07-0629</ref> |
Nosebleeds, bleeding from the gums and tongue are commons after a minor trauma for people with this disease. bleedings in the brain and internal organs can occur for affected individuals which can lead to be fatal. However, it's rare. Women with this disease can experience an abnormal heavy menstrual bleeding, they could also have a difficult time carrying a pregnancy, and could result in miscarriages. Newborn with this disease can experience bleeding from the umbilical cord stump after birth. The treatment for this disease includes cryoprecipitate, fibrinogen, and plasma (contains clotting factors). <ref>PMID: 19598064</ref> | Nosebleeds, bleeding from the gums and tongue are commons after a minor trauma for people with this disease. bleedings in the brain and internal organs can occur for affected individuals which can lead to be fatal. However, it's rare. Women with this disease can experience an abnormal heavy menstrual bleeding, they could also have a difficult time carrying a pregnancy, and could result in miscarriages. Newborn with this disease can experience bleeding from the umbilical cord stump after birth. The treatment for this disease includes cryoprecipitate, fibrinogen, and plasma (contains clotting factors). <ref>PMID: 19598064</ref> | ||
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This is hereditary disease which insoluble amyloid proteins deposits in body tissues and organs. This tends to abnormal protein build-up and leads to damaged organs and deaths. The disease is caused by a mutation fibrinogen alpha chain.<ref>PMID: 23227278</ref> | This is hereditary disease which insoluble amyloid proteins deposits in body tissues and organs. This tends to abnormal protein build-up and leads to damaged organs and deaths. The disease is caused by a mutation fibrinogen alpha chain.<ref>PMID: 23227278</ref> | ||
| - | This disease does not show symptoms at first stage. when it gets relatively advanced, the symptoms can be lack of appetite, weight loss, fatigue, weakness, shortness of breath, etc. Due to abnormal protein build-up in body organs, organs can be affected such as heart, liver, kidney, skin, etc. This leads to cardiomyopathy, liver failure, skin rash, nephrotic syndrome. However, nervous system is not affected. There is no treatment for this disease <ref> PMID: 8097946 </ref> | + | This disease does not show symptoms at first stage. when it gets relatively advanced, the symptoms can be lack of appetite, weight loss, fatigue, weakness, shortness of breath, etc. Due to abnormal protein build-up in body organs, organs can be affected such as heart, liver, kidney, skin, etc. This leads to cardiomyopathy, liver failure, skin rash, nephrotic syndrome. However, nervous system is not affected. There is no treatment for this disease <ref> PMID: 8097946 </ref>. |
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| + | '''Congenital Dysfibrinogenemia'''. | ||
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| + | This is either inherited or acquired disorder caused by having abnormal form of fibrinogen. This leads to an abnormal blood clot formation; it could be increase or decrease ability to clot. Acquired dysfibrinogenemia is more common and associated with liver disease such as hepatitis, liver tumors. | ||
| + | Most of people with this disease have no symptoms and do not need a treatment. <ref> PMID: 25320241 </ref> | ||
Revision as of 22:13, 13 November 2020
Contents |
Fibrinogen alpha chain
Fibrinogen is a protein produced by the liver which can help control bleeding by formation of blood clots.
Function
protease thrombin cleaves fibrinogen into monomers. The formation of monomers, fibrinogen beta, and fibrinogen alpha is insoluble fibrin matrix. fibrin works as a binding or trapping agent in the coagulation process, which creates blood clot.
For small wounds, the polymerized fibrin with platelets forms a hemostatic plug over the wounds site. Fibrin is also anti inflammatory which it protects against IFNG- mediated hemorrhage.
Afibrinogenemic pregnant patients will result in spontaneous miscarriage. Fibrinogen supplemental will allow the patients to sustain the pregnancy, therefore, maternal fibrinogen plays a important role for successful pregnancy.[1]
Disease
Congenital afibrinogenemia (CAFBN)
This is an inherited blood disorder where the blood does not clot normally. This disease is caused by truncating mutation by the complete absence of fibrinogen. [2]
Nosebleeds, bleeding from the gums and tongue are commons after a minor trauma for people with this disease. bleedings in the brain and internal organs can occur for affected individuals which can lead to be fatal. However, it's rare. Women with this disease can experience an abnormal heavy menstrual bleeding, they could also have a difficult time carrying a pregnancy, and could result in miscarriages. Newborn with this disease can experience bleeding from the umbilical cord stump after birth. The treatment for this disease includes cryoprecipitate, fibrinogen, and plasma (contains clotting factors). [3]
Amyloidosis 8 (AMYL8)
This is hereditary disease which insoluble amyloid proteins deposits in body tissues and organs. This tends to abnormal protein build-up and leads to damaged organs and deaths. The disease is caused by a mutation fibrinogen alpha chain.[4]
This disease does not show symptoms at first stage. when it gets relatively advanced, the symptoms can be lack of appetite, weight loss, fatigue, weakness, shortness of breath, etc. Due to abnormal protein build-up in body organs, organs can be affected such as heart, liver, kidney, skin, etc. This leads to cardiomyopathy, liver failure, skin rash, nephrotic syndrome. However, nervous system is not affected. There is no treatment for this disease [5].
Congenital Dysfibrinogenemia.
This is either inherited or acquired disorder caused by having abnormal form of fibrinogen. This leads to an abnormal blood clot formation; it could be increase or decrease ability to clot. Acquired dysfibrinogenemia is more common and associated with liver disease such as hepatitis, liver tumors. Most of people with this disease have no symptoms and do not need a treatment. [6]
Structural highlights
This is a sample scene created with SAT to by Group, and another to make of the protein. You can make your own scenes on SAT starting from scratch or loading and editing one of these sample scenes.
</StructureSection>
References
- ↑ Iwaki T, Castellino FJ. Maternal fibrinogen is necessary for embryonic development. Curr Drug Targets. 2005 Aug;6(5):535-9. doi: 10.2174/1389450054546006. PMID:16026273 doi:http://dx.doi.org/10.2174/1389450054546006
- ↑ Asselta R, Plate M, Robusto M, Borhany M, Guella I, Solda G, Afrasiabi A, Menegatti M, Shamsi T, Peyvandi F, Duga S. Clinical and molecular characterisation of 21 patients affected by quantitative fibrinogen deficiency. Thromb Haemost. 2015 Mar;113(3):567-76. doi: 10.1160/TH14-07-0629. Epub 2014 Nov , 27. PMID:25427968 doi:http://dx.doi.org/10.1160/TH14-07-0629
- ↑ de Moerloose P, Neerman-Arbez M. Congenital fibrinogen disorders. Semin Thromb Hemost. 2009 Jun;35(4):356-66. doi: 10.1055/s-0029-1225758. Epub, 2009 Jul 13. PMID:19598064 doi:http://dx.doi.org/10.1055/s-0029-1225758
- ↑ Baker KR, Rice L. The amyloidoses: clinical features, diagnosis and treatment. Methodist Debakey Cardiovasc J. 2012 Jul-Sep;8(3):3-7. doi: 10.14797/mdcj-8-3-3. PMID:23227278 doi:http://dx.doi.org/10.14797/mdcj-8-3-3
- ↑ Benson MD, Liepnieks J, Uemichi T, Wheeler G, Correa R. Hereditary renal amyloidosis associated with a mutant fibrinogen alpha-chain. Nat Genet. 1993 Mar;3(3):252-5. PMID:8097946 doi:http://dx.doi.org/10.1038/ng0393-252
- ↑ Casini A, Blondon M, Lebreton A, Koegel J, Tintillier V, de Maistre E, Gautier P, Biron C, Neerman-Arbez M, de Moerloose P. Natural history of patients with congenital dysfibrinogenemia. Blood. 2015 Jan 15;125(3):553-61. doi: 10.1182/blood-2014-06-582866. Epub 2014, Oct 15. PMID:25320241 doi:http://dx.doi.org/10.1182/blood-2014-06-582866
