Cell Bio Exam 2 Clinical Examples

EDS CLASSIC 1/2

Atrophic scars and easy bruising

EDS HYPERMOBILITY 3

Dislocations

EDS VASCULAR 4

Thin skin, uterine or arterial ruptures

EDS Kyphoscoliosis 6

Congenital scoliosis and ocular fragility

Autosomal recessive

Leukocyte adhesion deficiency (LAD)

Integrins cannot bind and WBC miss source of infection

WNT SIGNALING DEFECT

Defects in the regulation of Wnt signaling can result in colorectal cancer

Adenomatous polyposis coli (APC)

Tumor suppression mutation

Epithelial cells in intestinal crypts proliferate to form a polyp.

Zellweger Syndrome

peroxisome dysfunction

mutations in PEX genes (no cure)

degeneration of brain, liver, kidney

hypotonic, hepatomegaly, seizures, poor feeding

Cystic Fibrosis

Mutations in CFTR Chromosome 7

Unbalanced chloride ions = thick mucus and poor absorption

Phagocytosis (TB)

• Random component interference

• Coronin 1 → calcium incr → calciniurin → inhibition

Familial Hypercholesterolemia

LDL Receptor Mutation

Cholesterol accumulates in the blood stream and predisposes the person to atherosclerosis and heart attack

Nitroglycerin

Acetylcholine to IP3 to Calcium to NO to guanylyl cyclase to cyclic GMP to smooth muscle relaxation

Myasthenia Gravis

Antibodies attack nicotinic receptor blocking voltage gated ion channel

Na cannot pass through synaptic cleft = droopy eyelids

Cholera Toxin

Modify G alpha subunit & lock protein in active states

AC is continually stimulated for increased cAMP

Leads to chronic outflow of Cl- & H2O - diarrhea

Mutated Ras

Mutations inactivates GTPase activity of Ras

Ras could not shut itself off and promotes uncontrolled cell proliferation = cancer

Trisomy

Down syndrome (chromosome 21)

X-Linked trisomy

3 identical chromosomes (autosomal or sex linked)

Turner Syndrome

One X chromosome no y (sex linked) female

Aneuploidy 2n=45

swelling of the dorsal areas of her feet along with a broad (webbed) neck, a broad chest, and a heart murmur that is due to coarctation of the aorta

Klinefelter syndrome

Sex Linked (XXY) male

Aneuploidy 2n=47

Robertsonian translocation

joining of two acrocentric chromosomes at the centromeres

Down syndrome: (trisomy) translocation t(14;21)

cri-du-chat syndrome

Small head = intellectual disability

deletion of the distal short arm of chromosome 5: del(5p)

Phenylketonuria (PKU)

high levels of phenylalanine

autosomal recessive genetic disorder

Reduce phenylalanine in diet to revert condition

Luxturner Gene Therapy

Adeno-associated virus vector-based gene therapy

RPE65 mutation-associated retinal dystrophy

Cellular Therapy- CAR-T cancer immunotherapy

CAR-T is effective to treat blood cancers but the risk of different cancer (non-Hodgkin’s lymphoma) increases by chromosome rearrangements