bmd 320 exam 1 mod 4
what is the function of peroxisomes
-detoxify harmful compounds and catabolize unusual substances -breakdown of fatty acids -plasmalogen sythesis -VLCFA: bisynthesis of cholesterol and bile acids
trecher collins prsents on the skin like
jaw issues
what causes zellweger syndrome
mutation in PEX genes if no peroxisome functions cause an increase in VLCFA causes damage to the nervous system
what disease is associated with peroxisomes
ALD
what disease can ribosomes cause
Treacher collins 1 cartilage hair x-linked dysheratosis 3 shwachman sq sydrome dimand black fan disease 2
chemically how does tay sachs work
a decrease in b-hex, means that gang degraded is stoped, found in nervous tissue
what are symptoms of tay sachs
- red spot on the retina, high in some jewish population, autosomal recessive trait
what is the function of the smooth er
-manage calcium pump, if too low then muscle weakness occurs -responsible for inactivary and detox protentially harmful substances muslce contractions
what diseases can mitocondria cause
Leigh Syndrome
what organelle is involved in lipid synthesis
Smooth ER
what disease can happen if lysosomes dont function
Tay Sach's
other diseases caused by the peroxisomes
XALD: defect in transport of VLCFA across the membrane NALD and IRD ALD
what is leigh syndrome
a mutation in SURF 1 gene (found in inner membrane) and is triggered by a viral illness
what disease can be caused by a malfunctioning golgi
achondrogensis
why do mitocondria have ribosomes
carry out protien synthesis
what is Tay Sach's disease
deficiency in B-hexosaminidase activity and lysomal accumilation sweeling in lysosomes
what does x-linked dysheratosis look like
dots on the skin, mouth, and nails
how is achondrogensis caused
loss of GMAP-210 works on bone/cartilage function die within hours
list the main organelles in the cell
lysomal, peroxisomes, smooth and rough ER, mitochondria, ribosomes, and golgi
Tay-Sachs disease is associated with what orangelle
lysosomes
Patient: 3 month old baby girl admitted for a severe respiratory viral infection after she began to have trouble suckling and turning her head. This progressed to vomiting and seizures. Physical exam revealed decreased muscle tone. Parents told the attending physician that 5 years ago they had lost a child under similar mysterious circumstances. Cellular Level: There are abnormal levels of lactate and pyruvate levels. There are also low levels of ATP. which orangelle is this
mitocondria
Which of the following organelles, became an organelle through endosymbiosis?
mitocondria
which organeel eis not found in the endomembrane system
mitocondria
Patient: A two day old male presents with low birth weight (4.3 pounds), difficulty suckling/swallowing, seizures and GI bleeding. Additional symptoms include: enlarged liver, low muscle tone/inability to move, glaucoma, facial deformities, impaired hearing, jaundiced skin. Cellular Level: High levels of hydrogen peroxide in cells and high levels of fats and amino acids in cells. what organelle caused this
peroxisomes
three things all eukayotes have
plasma membrane, nucleus membrane bound organelles, cytosol
what is the function of the golgi complex
process of packaging secretory protiens
what is the function of the mitocondria
program cell death, encodes protien, protien sysnthsis, ATP production - found in cristae or matrix
which of the following statment is true
the neculur membrane is thought to have arisen from the plasma membrane invagina
what is the symptoms of zellweger syndrom
high levels of h2o2, jaundiced skin, big liver, less msucle tone, issues suckling and swallowing
what disease is caused by cell membrane
CF
what are other disease related to just lysomes
Niemann-Pick, fabry, Hunter syndrome
what does b-hexosaminidase do
remove amino acid from gangliosides
what do fungal and palnt cells have
rigid cell wall that is currounded by an extracellular matrix
Patient: As a baby Audrey Netherly had very pale skin, and low red blood cell (RBC) counts at birth, she was also growing slowly, (very short/small for her age) and has heart liver and kidney problems. She is now 7 and has recently been diagnosed with osteoporosis. Cellular Level: There are troubles with producing proteins essential for RBC function. which orangelle is this
rough ER
what is the function of ribosomes
small and large subunits (40s and 60s), it is a step wise process
dimaond black fan looks like
small jaw, with chubby cheecks and chubby hands
what is the function of the lysosomes
stores hydrolases, which digest any kind of biological molecule -found around the neuclues
what diseases are linked to peroxisomes
zellweger syndrome
