Medications & MOA for Exam 1 (genomics)

-is an innovative enzyme therapy approved for treatment of patients with lysosomal acid lipase deficiency (LAL-D).

-

-decreased or loss-of-function of the LAL enzyme

-leads to continuous accumulation of cholesteryl esters and triglycerides in the liver, blood vessel walls and other tissue

-can result in progressive complications in multiple organs; liver, spleen, and intestine

What end suffix refers to enzyme based medications?

What end suffix refers to monoclonal antibody therapy?

first and only FDA- approved treatment for X-linked hypophosphatemia (XLH) in adult and pediatric patients 1 year of age and older.

targets human mRNA for apo B-100, the prinicpal lipoprotein of LDL. The binding of this drug to mRNA results in degradation of the mRNA thus inhibiting translation of the apo B-100 protein.

anti-VEGF inhibitor approved by the FDA for the treatment of Wet Age-Related Macular Degeneration. (injected into the eye)

AS-ON nucleotides are denoted by what suffix?

Aptamers are denoted by what in their name?

are RNA or DNA nucleic acid drugs that recognize specific proteins. They fold up into unique 3-D structures, allowing them to bind specifically to proteins.

doubled-stranded siRNA that causes degradation of mRNA through RNA interference, which results in a reduction of serum TTR protein and TTR protein deposits in tissues.

-therapeutics used to target host mRNA

-"kill the messenger"

-NOT CRISPR technology

rare progressive neurodegenerative disease caused by the decreased ability of cells to produce sufficient energy in the form of ATP

What drugs are most often used to treat MELAS

topoisomerase inhibitors include what in their name?

-topoisomerase I inhibitor

-anticancer agent

-cause apoptosis of cancer cells by:

-intercalation into DNA

-Topisomerase IIa inhibition

What adverse effects does Doxorubicin have?

What is the lifetime dose of Doxorubicin?

How do we identify fluoroquinolone antibiotics?

inhibits bacterial DNA gyrase and bacterial topoisomerase IV.

these proteins work to "pack" DNA to protect, but also permit access to the information in the DNA for replication & transcription.

increases gene activity by creating a more open chromatin

-removes acetyl groups

-leads to gene repression through condensation of chromatin

-"on-off switch"

HDAC inhibitors render chromatin "transcriptionally competent" by keeping chromatin in open state. T/F?

-block erasing of acetyl groups

-causes accumulation of acetylated histones

-induces apoptosis of cancer cells

Which stem denotes HDAC inhibitors?

What is one basic structure requirement of all HDAC inhibitors?

completed fragments that are joined together by this enzyme, catalyses the formation of a phosphodiester bond between the 3; -OH end of one fragment and the 5'-P end of the next.

How far apart are RNA primers?

How long are RNA primers?

DNA polymerase inhibitors that are used to treat Herpes Simplex Virus (HSV)?

Which CFTR mutation classes do we have approved therapeutics for?

-CFTR gate potentiator

- first-in-class treatment of CF

-responsive to G551D

Ivacaftor is used for what type of mutations?

-change in genetic code that results in coding for a stop codon; protein is generally LOF or function is impeded.

Class 1 CFTR mutations result from what kind of mutations; and how does this affect the protein?

Orkambi is indicated for patients with what type of gene? What mutation class does this fall under?

-acts as a small molecule chaperone for CTF and helps it get to cell surface-referred to as correctors.

Orkambi is a combination therapy utilizing what medications?

-first triple combination therapy approved for patients 6 years and older who have at least one F508del mutation in the CFTR gene

-injection

-antisense oligonucleotide

-for patients who have confirmed mutation of DMD gene

EXONDYS-51 converts _____ to ______

-SM2 AS-ON

-administered by intrathecal injection (spinal)

-binds to exon 7 and increases inclusion forming production of full-length SMN protein

-standalone DNA constructs that do not integrate into the genome.

-replicate independently of host genome

-wild-type copy of SMN-dsDNA gene packaged in adeno-associated virus 9 vector

-delivered IV

-delivered to non-dividing cells such as

-nuclear enzyme that facilitates the repair of DNA single-strand breaks (SSBs) through a process called Base Excision Repair (BER)

When PARP's are inhibited, unrepaired SSBs colliding with replication forks give rise to lethal ____

-function in a process termed synthetic lethality

-this drug is used in tumor cells that already have defects in DSB repair pathways

-tumor suppressor gene/protein

It is known that BRCA1/2 mutation genotypes have defective ___

PARP inhibitors are denoted by what suffix?