Conditions/Drugs Q2 Flashcards
Toxin that causes DNA damage such as adduct formation, AF-guanine conjugation, oxidative DNA damage, or DNA strand breakage
Aflatoxin B1
Condition caused by homozygous mutations in the splice junction sequences at intron-exon boundaries. Results in little to none hemoglobin beta chain produced. SNP
Beta thalassemia
Toxin that catalyzes the transfer of NAD+ to a residue in eukaryotic elongation factor (eEF-2), inactivating it.
Causes upper respiratory tract infection. Dense, gray pseudomembrane covering the tonsils is seen.
Diphtheria
Dense, gray pseudomembrane covering the tonsils indicates this condition
Diphtheria infection
Toxin that is a N-glycosidic hydrolase; cleaves the N-glycosidic bonds of rRNA 60S subunit, inactivating the ribosome and inhibiting translation elongation.
Ricin toxin
Action of ricin toxin
Cleaves N-glycosidic bonds of rRNA 60S subunit, inactivating the ribosome and blocking translation elongation
Diphtheria and Ricin toxin stop this cellular process
Translation elongation
Condition caused by a mutation (SNP) where the associated gene lacks a phenylalanine in the 1st nt binding domain, causing a defect in folding which prevents forward transport to the Golgi.
Cystic fibrosis
Disease caused by a defective GlcNAc phosphotransferase (Golgi enzyme). Enzyme fails to transfer phosphate to mannose residues, resulting in no hydrolases being targeted for lysosomes and thus an accumulation of substrates.
Inclusion-cell (I-cell) disease
Condition caused by an SNP of the 6th position of beta globin chain, where it is changed from a hydrophilic Glu to hydrophobic Val, causing protein misfolding.
Sickle cell anemia
A1-antitrypsin (A1AT) deficiency is due to this
Protein misfolding
Condition where nucleotide excision repair enzymes are mutated, leading to an inability to repair DNA damage from UV (pyrimidine dimers)
Severe sunburn, freckles, solar keratoses, skin cancer
Xeroderma Pigmentosum
Xeroderma pigmentosum is due to a problem with this DNA repair system
Nucleotide excision repair
Beta thalassemia is due to
Mutations in the splice junction
A subunit of the diphtheria toxin inactivates this protein
Elongation factor 2 (eEF-2)
Ricin A is what kind of enzyme
N-glycoside hydrolase
Ricin toxin affects what protein
rRNA of 60S subunit
The defective enzyme in I-cell disease fails to create what
mannose-6-P
The SNP of sickle cell anemia causes what
Protein misfolding
Disorder linked to imprinted region of chromosome 15 where the gene from mother is normally silenced and paternal gene is deleted or mutated
Learning difficulties, short stature, compulsive eating
Prader-Willi syndrome
Disorder linked to imprinted region of chromosome 15 where the gene from father is normally silenced and maternal gene is deleted or mutated
Learning difficulties, speech problems, seizures, jerky movements, unusually happy disposition
Angelman Syndrome
