Lecture 19 Flashcards Preview

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Flashcards in Lecture 19 Deck (20)
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1
Q

_____ creates thrombin from _____ via proteolytic cleavage.

A

Factor V creates Thrombin from PROTHROMBIN via proteolytic cleavage.

2
Q

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

A

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.

3
Q

About _____% of DVTs arise from genetic issues.

A

About 50%

4
Q

Rivaroxaban, an anticoagulant, directly inhibits _____.

A

It directly inhibits Factor X

5
Q

Warfarin/Coumadin inhibit _____ -dependent synthesis of clotting factors.

A

They inhibit Vit K-dependent synthesis of clotting factors.

6
Q

_____ binds Antithrombin III and ______ its activity.

A

Heparin binds Antithrombin III and increases its activity.

7
Q

_____ leads to higher propensity for Torsade de Pointes and Ventricular Fibrillation.

A

Long QT (LQT) leads to higher propensity for these two issues.

8
Q

Mutations in LQT2 gene, aka _____, cause issues with _____ channels and account for 45% of LQT associated mutations.

A

Mutations in LQT2, aka HERG gene, causes issues with POTASSIUM cahnnels.

9
Q

Mutations in LQT3 gene, aka _____, cause issues with _____ channels and account for 5% of LQT associated mutations.

A

Mutations in LQT3, aka SCN5 gene, cause issues with SODIUM channels.

10
Q

LQT patients have a predisposition to ______ and sudden death.

A

They have a predisposition to ARRYTHMIAS.

11
Q

Mutations in ______ or ______ genes could give rise to Hypertrophic Cardiomyopathy (HCM.)

A

Mutations in MYBPC3 or MYH7 genes could give rise to HCM.

12
Q

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.

A

With MYBCP3 mutation the actin doesn’t know where to stop.

13
Q

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.

A

Early onset AD arises from genetic mutation in Amyloid Precursor Protein (APP) gene and Presenilin 1 and 2 genes.

14
Q

Late onset (classic AD), accounting for 95% of AD incidence, arises from _____ variants.

A

Late onset AD arises from Apolipoprotein E (APOE) variants.

15
Q

There are 3 variants of the APOE allele. _____ variant confers protection, _____ variant is considered neutral, and _____ variant is considered high risk (4x increased risk.)

A

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.)

16
Q

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.

A

LEP and LEPR mutations are linked to obesity.

17
Q

The normal function of _____ involves metabolism/modification of xenobiotics (foreign biological molecules.) This function helps them activate and/or eliminate certain pharmacological agents (drugs.)

A

The normal function of CytP450 involves metabolism/modification of xenobiotics.

18
Q

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.)

A

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.

19
Q

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.)

A

CD4

Rheumatic Fever

Flu

20
Q

_____ 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.

A

CYP2C9