Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
30 Cards in this Set
- Front
- Back
dyskeratosis congenita (DKC)
|
Progeria (assoc w. bone marrow failure syndrome)
Accumulation of short telomeres across generations severe the disease phenotype |
|
Kartagener’s syndrome
|
aut rec, Mut in axonemal dynein gene.
Lack of dynein arms. Male sterility due to immotile sperm. Susceptibility to lung infections due to paralyzed cilia in the respiratory tract (bronchiectasis, sinusitis). Defects in determination of the left-right axis of the body during early development (situs inversus). |
|
Familial hypertrophic cardiomyopathy
Dilated cardiomyopathy |
ACTIN Affected: heart structure and activity (heart enlargement, small coronary vessels,disturbances in heart rhythm)
Incidence: 2/1000 people, inherited Cause: mutation in cardiac b myosin heavy chain (in or near motor domain) or other contractile proteins |
|
Epidermolysis bullosa simplex
|
KERATIN
Affects: skin, mouth, esophageal lining, eye cornea Effect: epidermal cells rupture as a consequence of mechanical trauma Cause: mutation in N- or C-terminal of keratin gene Clinical symptom: blistering of the skin or other epithelia |
|
HGPS Hutchinson-Gilford Progeria Syndrome
|
Upstream cleavage into mature Lamin A is blocked
PROGERIA die of atherosclerosis at 13 |
|
Celiac Disease
|
autoimmune disease induced by gluten (a small protein found in wheat, barely and rye), large amounts if indigestible gluten fragments seep into the underlying tissue and incite immune system cells.
LEAKY "tight junctions" of SI |
|
Zonulin
blocked by? |
zona occludens toxin
loosens tight junction Larazatide blocks zonulin from making gut permeable |
|
Pemphigus vulgaris
|
autoimmune skin disease against a cadherin prot, disrupts/impairs desmosomes of skin epithelium.
severe blistering of the skin with leakage of body fluids, loosened epithelium and severe skin lesions that might be fatal, due to secondary infections. Treated with steroids |
|
dentine dysplasia type II
|
DSPP mut (tyr for asp)
failure of translocation of the encoded proteins into the ER--> loss of function of both dentine sialoprotein and dentine phosphoprotein. |
|
Congenital Disorders of Glycosylation
|
effects Nervous System
Progeria variant of Ehlers-Danlos N-glycan assembly/processing dis |
|
Perlizaeus-Merzbacher disease
|
CNS-misfolding of PLP membrane prot (proteolipid protein)
misfolded prot is recognized and held in ER instead of transported to cell surface (more ex's of this are antitrypsin, CFTR) |
|
Mucolipidosis II
|
I-cell dis (1:350,000) lysosomal storage disease caused by deficient activity of the enzyme N-acetylglucosamine-1-phosphotransferase, which leads to a failure to internalize enzymes into lysosomes.
failure to thrive, behavioral dullness, facial dysmorphia, and ataxia. |
|
I-cell disease
|
caused by a deficiency in the enzyme that catalyses the first step in the tagging of lysosomal enzymes with mannose 6-phosphate in the Golgi. The result: a general deficiency in lysosomal enzymes.
|
|
Myeloma treatment?
|
bortezomib (velcade)
|
|
Ubiquitin-Proteasome pathway-related clinical disorders =
Mutations causing abnormal folding of a target protein (2) |
Cystic fibrosis a genetic disease causing severe chronic bronchopulmunary disorders. 25% of the normal CFTR (cystic fibrosis conductance transmembrane regulator) chloride channel molecules reach the cell surface. Mutated CFTR (DF508), is retained in the ER, and degraded via the proteasome after ubiquitin modification.
The Wilson protein a copper transporter, normally localized to the trans-Golgi. Mutated protein is misfolded and retained in the ER, (Wilson disease; disorder of copper metabolism: neuronal degeneration, hepatic cirrohsis) |
|
Mutations in the ubiquitin pathway (2)
|
Anglemans syndrome
Parkinson's dis- ARJP |
|
Anglemans syndrome
|
rare inherited mental disorder. Truncated ubiquitin ligase (E6-AP) was identified in patients. The target(s) of this ligase has not yet been identified.
|
|
Parkinson's - ARJP
|
Parkin, an E3 ubiquitin ligase, is associated with autosomal recessive juvenile Parkinsonism. accumulation of unfolded Pael receptor (a substrate of parkin) may cause selective death of dopaminergic neurons in AR-JP.
|
|
Skeletal muscle wasting
|
occurs in pathological states (fasting, starvation, sepsis and denervation). Activation of the ubiquitin proteasome pathway plays a role in this process
|
|
Myasthenia Gravis
|
disease of the neuromuscular junction Reduction of ACh receptors by autoantibodies
Treat:Immunosupression, Inhibitors of acetylcholine esterase, Rest |
|
Duchenne’s muscular dystrophy DMD
|
progressive disease that begins in early childhood. The individual is unable to walk by the end of the first decade and usually does not survive beyond the third decade (respiratory or cardiac failure).
X-linked recessive (mostly males). Dystrophin gene defect (protein anchored to the sarcolemma that has actin-binding capabilities). |
|
Dystrophic muscle
|
Variations in fiber diameters, internalized nuclei, destruction of myofibrils, sarcomere disorganization, thicker and skewed Z lines, lipid droplets (L) in the sarcoplasm.
Breakdown of muscle fibers and their replacement by fibrous connective tissue (fibrosis). |
|
osteopetrosis
|
inactive osteoclasts
DENSE, HEAVY BONES (MARBLE BONES) BONE RESORPTION IS DEFECTIVE OSTEOCLASTS LACK RUFFLED BORDER |
|
osteoperosis
|
overexpress osteoclasts
reduced activity of osteoblasts |
|
Osteoblastoma
|
benign
young adults upper tibia, upper humerus, lower end of femur The skeleton is the site of metastases from tumors of: breast,lung,prostate,kidney,thyroid |
|
osteosarcoma
|
Malignant
young adults upper tibia, upper humerus, lower end of femur The skeleton is the site of metastases from tumors of: breast,lung,prostate,kidney,thyroid |
|
Mitochondrial fusion and neurodegen dis
|
CMT (charcot-marie-tooth) Mfn2/mitofusion mutation
ADOC (aut dom optic atrophy) OPA1mut |
|
Laminopathies
|
IntermFilament - LaminA
Emery Dreifuss Musclular Dystrophy dilated cardiomyopathy limb girdle Musclular Dystrophy familial partial lipodystrophy |
|
Cholera
|
ADP-ribosylation
of the a subunit of Gs inhibits gtpase subunit -> constant Gsa-GTP signaling -> constant adenylyl cyclase/cAMP/PKA inc secretion of Cl/H2O in SI (diarrhea) |
|
Pertussis toxin
|
ADP ribosylation on the α subunit of the Gi protein (which normally inhibits adenylyl cyclase) -> inhibits dissociation of Gi-αβγ-GTP -> constant adenylyl cyclase/cAMP/PKA
Resp tract: whooping cough |