Drugs & Diseases Flashcards by Erin O

Deficiency of Lysyl Hydroxylase, pro collagen peptidase

Stretchy skin, hyper mobile joints and weaken blood vessels

Mutation in AA sequences of collagen Type III (I or V)
Collagen not secreted; either degraded or accumulated

Ehlers-Danlos Syndrome

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What are the causes of scurvy?

Vitamin C deficiency; ascorbate

No hydroxylation reactions; no cross-linking

Loose teeth, bruises on limbs; fragile capillaries

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Problem behind Osteogenesis imperfecta Type I

Which type is Lethal?

Easy fracturing and bending of bones; 50% of collagen is normal

Null allele for pro-collagen alpha 1

Type II

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Main disorder for Osteogenesis imperfecta Types II, III, and IV

Substitution of a Glycine with a more bulky Amino acid residue

No propagation of triple helix, mutations close to C-terminus more severe

Easy bending and fracturing of bones, slow wound healing and twisted spine

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Expansion of CGG trinucleotide repeat in 5’UTR of FMR 1 gene

Also extensive methylation of FMR1 promoter

Most common form of mental retardation

Fragile X syndrome

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Fragile X syndrome

Most common form of mental retardation

Expansion of CGG trinucleotide repeat in 5’UTR of FMR1 gene

Also extensive methylation of FMR1 promoter

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Rett Syndrome

Inappropriate activation of methylated genes

Autism spectrum disorder mainly in females

Mutations in X linked MECP2 (methyl CpG binding protein 2) which normally binds and silences methylated genes

X-linked dominant; males miscarried, therefore mainly in females

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Which syndrome causes inappropriate activation of methylated genes, caused by mutations in X linked MECP2 (methyl CpG binding protein 2) that normally binds and silences methylated genes

Rett Syndrome

X-linked dominant; mainly in females; males are miscarried

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Alpha-amanitin “death cap” mushroom function

Binds euk RNA polymerase, inhibiting DNA tx

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RNA pol II

Transcribes protein coding genes

Makes mRNA

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Method of action for Rifampin

Binds to beta subunit of prok RNA polymerase

Stops transcription initiation

Used to treat tuberculosis

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Action of Actinomycin D

Antibiotic

Inhibits Tx

Binds DNA template, not allowing for RNA pol to move along the strand

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Tetracyclin
Streptomycin
Erythromycin
Chloramphenicol

All disrupt what process?

Prok Translation

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Cyclohexamide
Pseudomonas toxin
Diphteria toxin

All inhibit which process?

Euk Translation

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Method of action of Shigella toxin

Binds to A site on euk ribosome, preventing aminoacyl tRNA binding, thereby preventing protein synthesis in translation

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Method of action of Shigella toxin

Binds to A site on euk ribosome, preventing aminoacyl tRNA binding, thereby preventing protein synthesis in translation

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What are the two categories of chromosome abnormalities?

Structural

2. Numerical

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What are the categories for numerical chromosome abnormalities?

Aneuploidy; single chromosomes (monosomy, trisomy, tetrasomy)
Polyploidy; complete sets of chromosomes (triploidy, tetraploidy)

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What are the categories of structural chromosome abnormalities?

Translocation
Inversion - two breaks in same chromosome w/ reversal of order of segment
Deletion - results in unbalanced karyotype; partial monosomy; offspring will have too much info and not
Insertion
Rings
Isochromosomes

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Robertsonian Translocation

Two non-homologous Acrocentric chromosomes break at centromere and long arms fuse, while short arms are usually lost

No change in chrom. Number or risk to carriers

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What cytogenetic abnormalities are most common in live born infants?

Trisomies XXY, XYY, and XXX

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What are the most common cytogenetic abnormalities in spontaneous abortions?

Monosomy X

Klinefelter syndrome

Karyotype
Phenotype

47, XXY

Nondysjunction at anaphase

Learning difficulties
Testicular atrophy
Gynecomastia - breast dev.
Female hair distribution
Barr body present
Hypogonadism

47, XYY Syndrome

Tall
Muscular
Subnormal IQ
Attention deficit
Hyperactivity

Trisomy XXX

Not phenotypically abnormal

Which chromosome abnormality results in phenotypically normal? ``` A. Turners syndrome B. Klinefelter syndrome C. Trisomy X D. 47, XYY E. Trisomy 21 ```

C. Trisomy X; XXX

Turner Syndrome Karyotype Genotype

Edema of the feet Discolored sports Narrowing of the aorta Avg. Or Above normal IQ 'Menopause before menarche' = increased LH & FSH Spontaneous abortion Deficiency in spatial perception & fine motor skills

Down syndrome

Trisomy 21; most common Moderate Mental retardation Can be due to Robertsonian translocation but mainly nondysjunction ``` Flat nasal bridge Low set folded ears Short neck with loose skin on nape Epicanthal folds (inner corner of eye) Brushfield spots around margin of iris "Simian crease" on hand Congenital heart disease in 1/3 ```

Edward syndrome

Trisomy 18 47, XY +18 or 47, XX +18

List the 3 main categories of genetic disorders

1. Single gene disorders 2. Chromosome disorders 3. Disorders of complex inheritance

What is the base substitution for sickle cell disease?

Mendelian Inheritance T substituted for an A in coding strand of DNA = Valine substituted for Glutamic Acid; Glu6Val; E6V Valine = neutral; Glutamic acid = charged; phobic Affects beta subunit of Hb

Clinical features of sickle cell disease

(Mendelian Inheritance) ``` Hemolytic anemia Dehydration Deoxygenation Red cells sickle under conditions of low O2 tension Hypoxia ``` Affects beta subunit of Hb

Phenylketonuria

Deficiency of phenylalanine Hydroxylase Autosomal recessive Treated by following strict diet after birth Elevated phenylalanine in tissues, plasma, urine Mental retardation Failure to walk and talk Hypopigmentation (lack of tyrosine)

Symptoms: Hypopigmentation, mental retardation, elevated phenylalanine in urine, tissues, and plasma.

PKU; Phenylketonuria

Complete loss of branched chain alpha-keto-acid dehydrogenase Elevated levels of Leu, Ile, Val = which are hydrophobic; accumulation has toxic effects on the brain Vomiting, dehydration, feeding problems Metabolic acidosis

Maple Syrup Urine Disease

Most common symptoms of mitochondrial disorders?

``` Progressive muscular weakness Retinitis pigmentosa Hearing loss Ataxia Heart muscle deterioration ``` Phenotypic expression = directly related to amount of mutated mtDNA in a cell

What type of disorders stem from: ``` Progressive muscular weakness Retinitis pigmentosa Hearing loss Ataxia Heart muscle deterioration ```

Mitochondrial disorders

What type of transport is Coatomer-coated transport?

A vesicular transport that moves materials between the RER and the Golgi ``` Anterograde = RER --> Golgi; COPII Retrograde = Golgi --> RER; COPI ```

Vesicular transport is used to transport what type of substances?

LARGE; whereas transmembrane proteins are used for small, hydrophilic substances with or against their [gradient]. (ATP pumps, Channels, Transporter/Carriers)

Where in the body can you find caveolin-coated vesicles?

Endothelial and Smooth muscles cells

List the three types of vesicular transporters

1. Clathrin-coated; dynamin (receptor mediated endocytosis) 2. Coatomer-coated; COPII and COPI 3. Caveolin-coated; endothelial and SM cells

Where are cilia found?

Epithelial cells of the respiratory tract and oviduct of female genital tract Contain microtubules

Which of the following cell organelles contain no membrane? ``` A. Microtubules, Centrioles, Ribosomes B. Ribosomes, centrioles, mitochondria C. Lysosomes, ribosomes, mitochondria D. Vesicles, centrioles, Microtubules E. Microtubules, peroxisomes, mitochondria ```

A. Centrioles, microtubules, ribosomes | 3

Which part of mitochondria contain cristae? ``` A. Outer membrane B. Inner membrane C. Inter-membrane space D. Mito matrix E. Outer and Inner membrane ```

B. Inner membrane Cristae increases SA

Cytochrome c of mitochondria is located in what part of mitochondria? ``` A. Outer membrane B. Inner membrane C. Inter-membrane space D. Mito matrix E. Outer and Inner membrane ```

C. Inter-membrane space; apoptosis

Which part of mitochondria contain cristae? ``` A. Outer membrane B. Inner membrane C. Inter-membrane space D. Mito matrix E. Outer and Inner membrane ```

B. Inner membrane Cristae increases SA

Cytochrome c of mitochondria is located in what part of mitochondria? ``` A. Outer membrane B. Inner membrane C. Inter-membrane space D. Mito matrix E. Outer and Inner membrane ```

C. Inter-membrane space; apoptosis

List the two classes of cell surface receptors

1. Ion-channel-linked receptors; (transmitter-gated ion channels) i.e. Synaptic signaling; dimer 2. Enzyme-linked receptors; single-pass; ligand-binding site = extracellularly + catalytic site intracellularly

Define potentiality

A cell's capacity for giving rise to cells of other types

Cause of beta-thalassemia

Defective mRNA splicing

Define pleomorphism

A property of anaplastic cells (cancerous) Cells that display hyperchromatic nuclei (deeply stained) High nuclear to cytoplasm ratio (1:1 rather than 1:4) High mitotic rate, NO cellular adhesion

Characteristics of anaplasia cells

1. Loss of differentiation 2. Backward growth to embryonic cells 3. Pleomorphism; no adhesion, greater mitosis, large nucleus:cytoplasm ratio (1:1 instead of 1:4), hyperchromatic nuclei (deeply stained purple)

List the three types of cells Love.Peace.Sex

1. Labile; skin cells, susceptible to neoplasia 2. Permanent; quiescent until stimuli comes = highly mitotic; susceptible to neoplasia 3. Stable; nonproliferative; resistant to neoplasia