Lecture 19 Flashcards
_____ creates thrombin from _____ via proteolytic cleavage.
Factor V creates Thrombin from PROTHROMBIN via proteolytic cleavage.
G to A mutation in Factor V is called ______. It makes Factor V more active, so more _____ can be produced from _____, which leads to _____/PE
This mutation in Factor V is called FACTOR V LEIDEN. It makes Factor V more active, so more THROMBIN is produced from PROTHROMBIN, which leads to DVT/PE.
About _____% of DVTs arise from genetic issues.
About 50%
Rivaroxaban, an anticoagulant, directly inhibits _____.
It directly inhibits Factor X
Warfarin/Coumadin inhibit _____ -dependent synthesis of clotting factors.
They inhibit Vit K-dependent synthesis of clotting factors.
_____ binds Antithrombin III and ______ its activity.
Heparin binds Antithrombin III and increases its activity.
_____ leads to higher propensity for Torsade de Pointes and Ventricular Fibrillation.
Long QT (LQT) leads to higher propensity for these two issues.
Mutations in LQT2 gene, aka _____, cause issues with _____ channels and account for 45% of LQT associated mutations.
Mutations in LQT2, aka HERG gene, causes issues with POTASSIUM cahnnels.
Mutations in LQT3 gene, aka _____, cause issues with _____ channels and account for 5% of LQT associated mutations.
Mutations in LQT3, aka SCN5 gene, cause issues with SODIUM channels.
LQT patients have a predisposition to ______ and sudden death.
They have a predisposition to ARRYTHMIAS.
Mutations in ______ or ______ genes could give rise to Hypertrophic Cardiomyopathy (HCM.)
Mutations in MYBPC3 or MYH7 genes could give rise to HCM.
With ______ mutation, the actin doesn’t “know where to stop.” So, you end up with asynchronous contraction and weak heart muscle as a result. To compensate, the heart muscle grows.
With MYBCP3 mutation the actin doesn’t know where to stop.
Early onset Alzheimers Disease (AD), an autosomal dominant disorder accounting for 5% of AD incidence, arises from genetic mutations in _____ ____ ____ and _____ 1 and 2 genes.
Early onset AD arises from genetic mutation in Amyloid Precursor Protein (APP) gene and Presenilin 1 and 2 genes.
Late onset (classic AD), accounting for 95% of AD incidence, arises from _____ variants.
Late onset AD arises from Apolipoprotein E (APOE) variants.
There are 3 variants of the APOE allele. _____ variant confers protection, _____ variant is considered neutral, and _____ variant is considered high risk (4x increased risk.)
Variant E2 is considered protective, variant E3 is considered neutral, and variant E4 is considered high risk (though new study shows amazon indigents - Tsimane people - with E4 variant and without AD.)
Mutations in _____ and _____ genes are linked to obesity because the protein produced from one gene binds the receptor produced from the other, and they work to signal satiety.
LEP and LEPR mutations are linked to obesity.
The normal function of _____ involves metabolism/modification of xenobiotics (foreign biological molecules.) This function helps them activate and/or eliminate certain pharmacological agents (drugs.)
The normal function of CytP450 involves metabolism/modification of xenobiotics.
If a person has a certain CytP450 that makes them a(n) ______, they can more easily overdose on drugs that require CytP450 metabolism for ACTIVATION (i.e. Codeine activated to morphine.)
If the person has a certain CytP450 that makes them an ULTRAMETABOLIZER, they are at higher risk for overdose from drugs that require CytP450 metabolism for activation.
Variant gene alleles are implicated in sensitivity or resistance to various infectious diseases. Examples include:
A ____ surface protein variant conveys resistance to HIV. Specific IGHV4 alleles are associated with increased incidence of _____ _____ after Strep pyogenes infection. _____ severity is influenced by IRF7 (interferon regulatory factor.)
CD4
Rheumatic Fever
Flu
_____ is an important CytP450 involved in metabolism of about 20% of drugs we use. Poor Metabolizer (PMs) alleles can lead to drug overdose with the same dosage as given to highly active allele carriers.
CYP2C9
