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Flashcards in All Case Studies Deck (13)

Maple Syrup Urine Disease

Failure to metabolize certain AA--> Val, Ile, Leu

Urine tested positive for keto acids and had elevated levels of branched amino acids

Val,Ile,Leu --> a-keto acids --> acetyl coA der. Leu
*last step doesn't happen when you have this disease

Treatment: should stop intake of nourishment involving high levels of Val, Ile, Leu


Cystic Fibrosis

High levels of IRT- immunoreactive Trypsinogen (normally produced by the pancreas)

Mutations can change amino acids resulting in changes in protein length, charge, etc --> chloride channels get messed up

Impaired Cl channels leads to enhanced Na absorption --> volume of liquid that sits on the surface is reduced --> mucus becomes more viscous --> bacterial growth


Typhoid Fever

Treated with ciprofloxacin type of Quinolone

-binds to DNA gyrase (topo II) and inhibits its ligase domains leading to DNA fragmentation

Only works on gram + and - bacteria, so does not affect humans



Nucleoside analogs resemble the nucleosides so much that they can incorporate in the DNA- however they quickly lose functionality (lack of -OH on 3' prevents additional nucleotide additions

Cannot participate in replication, transcription, etc.


Myotonic dystrophy

Autosomal dominant trinucleotide (CTG repeat) disorder in which the more repeated elements causes increased severity

Shows anticipation: age onset of disease gets earlier and earlier and severity increases with successive generations

Having repeats in the genome when not needed cause RNA to become too long --> interfere with proteins in some way


Aicardi-Goutieres Syndrome

Autosomal encephalopathy with microcephaly, calcifying basal ganglia, etc

result of defects with RNaseH2 gene that makes RNaseH (degrades RNA/DNA hybrids and removes RNA primers)

B/c RNA primers left in DNA, transcription is faulty and replication worsens it --> many mutated proteins

Caused by mutations in genes that are required for the Pre-RC complex (OriC1, 4, 6, CDC 6) --> impaired replication results in failure to grow


Dyskeratosis Congenita

Causes low blood count b/c of bone marrow failure --> caused by telomere maintenance malfunction by a mutated telomerase and shows anticipation as well (worsens with successive generations)


Constitutional mismatch repair deficiency, Xeroderma Pigmentosum

Characterized by defects in DNA repair, especially vulnerable to the sun and therefore get many skin cancers easily

XP genes can be knocked out, so can't repaid any of the pyrimidine dimers that form --> get cancer from the mutated DNA


Pitt-Hopkins Syndrome

See episodes of hyperventilation and apnea, sunken eyes, prominent high nasal bridge

Caused by inability of transcription factors to bind to DNA b/c of mutations in the basic regions of the transcription factors (less + charge, less binding to DNA, low transcription rate)


Rett Syndrome

Caused by MeCP2 on the X Chromosome

Mutated MeCP2 unable to properly bind to methylated DNA and block transcription, so see high rates of gene expression where there shouldn't be


Cutaneous T-cell lymphoma

Chromatin remodeling errors resulted in lymphoma by overactive HDAC and less expressed HAT --> DNA is less acetylated and tumor supressor genes are more expressed, stopping cancer


Fabry Disease

Lysosomal storage disease where there is a lack of glycosidase A

Amino acid mutation in alpha glycosidase A results in it being misfolded in the ER and globosides begin to accumulate in lysosomes and results in inflammation

Treatment: target the misfolded proteins and used specific small molecule chaperones to try and fix the problem



Results from nuclear lamin defect in which farnesyl groups are attached to type A lamins and then attached to nuclear envelope

Mis-shapen nuclei cause inhibition of import to FG Nup that forms the basket of the nuclear pore --> difficulty moving proteins into the nucleus due to nonfunctional pores