Packet 3 (Quiz 2) Flashcards
What are the 3 types of cells in normal growth cycles?
1) labile cells
2) stable cells
3) permanent cells
What are liable cells?
-cells that continue to proliferate throughout life
-continual cell replacement of the cells that die
-cells stay in cell cycle
-found in GI tract, blood cells, skin, urinary tract, mouth (types of protective epithelium, basically anywhere where there is abrasion)
What are stable/ quiescent cells?
-cells that regenerate under demand but rarely under normal conditions
-slower proliferation than liable cells
-found in liver, endocrine gland, kidney, bones
-these cells can regenerate if there’s damage to one of these areas
What are permanent cells?
-cells that cannot reproduce themselves after birth
-non-dividing, no proliferation
-found in CNS, nerve tissue, skeletal muscle, and heart
What are the 3 autosomal recessive genetic disorders we discussed in class?
1) gaucher’s disease (Go-SHAY)
2) neimann-pick disease
3) tay-sachs disease
This are all also lysosomal storage diseases!
Who has the highest risk of getting gaucher’s disease (Go-SHAY)?
eastern and central Jews (Ashkenazi) ancestry
In gaucher’s disease (Go-SHAY), it is missing an enzyme that breaks down lipids. This results in a buildup of fatty substances in certain organs, especially _________ and _________. The organs enlarge and effect their function
spleen, liver
What are the complications for gaucher’s disease (Go-SHAY)?
-liver and spleen are enlarged, so the abdomen can become painfully distended
-skeletal abnormalities (can weaken bone, increasing risk of painful fractures, can interfere with blood supply to bones which can cause portions of the bone to die)
-blood disorders (a decrease in healthy RBCs (anemia) can result in severe fatigue, also a decrease in platelets which can cause easy bruising and nose bleeds
-skin is pale bc the patient has a lack of oxygen in blood
-sphingolipidosis (harmful accumulation of sphingolipids and glucoserebrosides accumulate in RBCs, liver and spleen)
What is the deficient enzyme in gaucher’s disease (Go-SHAY)?
test q
glucocerebrosidase
What is the treatment for gaucher’s disease (Go-SHAY)?
enzyme replacement therapy (but its very expensive)
Which autosomal recessive genetic disorder may allow you to live into adulthood?
gaucher’s disease (Go-SHAY)
What is niemann-pick disease?
-unable to metabolize fat like cholesterol and lipids within cells, so they accumulate and the cells will malfunction and die
-this affects the brain, nerves, liver, spleen, BM, and lungs
-mainly affects children
-sphingolipidosis (sphingomyelin accumulates in the brain and RBCs)
Niemann-pick disease is a progressive loss of function of nerves, brain, and organs. What are the signs?
-mental retardation
-spasticity (you’re resisting your own movements, you cant control it so its tight and spazy)
-seizures
-hepatosplenomegaly
-thrombocytopenia (low platelet count)
-ataxia (no coordination)
Does niemann-pick disease have a cure?
no, its fatal
What is the deficient enzyme in niemann-pick disease?
test q
sphingomyelinase
memory cue- need your SPHINGER to PICK your nose
What is the first sign of someone wasted with alcohol?
loss of coordination, it affects the cerebellum first
this is the same for brain damage, cerebellum is affected first
Who has the highest risk to get tay-sachs disease?
Ashkenazi Jews (1/27 are carriers)
What is tay-sachs disease? What are the signs?
-gangliosides accumulate in neurons in the brain and spinal cord
-neurodegenerative disorder
-slowed development usually around 6 months old
-muscle weakness
-stiffness and muscle contractions (spasticity)
-excessively startled by noises/movements
-loss of motor skills
-seizures
-cherry red spot in macula of the eye
-usually will result in death by age 4
What enzyme is deficient in tay-sachs disease?
test q
hexosaminidase A
Birth defects are also known as….
congenital disorders
Congenital disorders may be the result of one or more of the following:
-genetic problems (genes not working properly, like Fragile X syndrome)
-chromosomal problems
-infections
-exposure to medication, chemicals, or other agents during pregnancy (ex: thalidomide)
What are the 3 types of congenital abnormalities?
1) agenesis
2) aplasia
3) hypoplasia
What is agenesis?
quiz q
failure of all or part of an organ to develop during embryonic growth
-many forms of agenesis are lethal but agenesis of one paired organ may create little disruption of normal function
-NO PRIMORDIAL TISSUE PRESENT HERE!!!!!
What are the 5 types of agenesis?
1) anencephaly
2) renal agenesis
3) meromelia
4) phocomelia
5) amelia
What is the most common type of agenesis?
anencephaly
Which type of agenesis can be prevented with folic acid consumption?
anencephaly