Organelles & Tissue organization and strucutre Flashcards
bloom’s syndrome
primary disease of the nucleus. mutation in BLM gene (required for unwinding DNA) mutation = impaired DNA replication
characteristics - short stature, sensitivity to UV light, increased risk of malignancy
detecting mutations in DNA
PCR, sanger sequencing
cytochrome C Oxidase Deficiency
normal enzyme involved in ox-phos. altered function = decreased energy production.
weak, poor muscle tone, sometimes = brain dysfunction, heart disease.
mitochondrial encephalomyopathy
lactic acidosis and stroke-like episode
myoclonic epilepsy with ragged red fibers
histological sign of mt dysfunction
test by stains. – affect energy production
alpha-1-antitrypsin (AAT) deficiency
AAT synthesized in ER of liver. inhibits proteases. abnormal protein = emphysema at young age, cirrhosis of liver, ER stress & inflammation
Congenital Disorder of glcosylation type 3
mutation in COG 5. = disrupts protein transport and glycosylation. clinical: hypotonia, delayed development, microcephaly
Niemann-Pick disease
lysosomal storage disease.
loss of enyme = lipid build up = cell death.
clinical: failure to thrive, loss of mental abilities and movement.
embryonic - blastocyst develops into two groups
trophoblast = placenta
inner mass cell = embryo.
embryo arranged in three germ layer
ectoderm - skin, and NS
mesoderm- bone marrow, muscle, circulatory
endoderm - inner lining of organs
checkpoint in cell cycle
- spindle assembly checkpoint - check for chromosome attachment to spindle
- G1 checkpoint - check for sie of cell, nutrients, growth factors, DNA damage
- G2 checkpoint - check for cell size, DNA replication
cell cylce control proteins
cyclins - regulatory proteins
CDK - cyclin dependent kinase
cyclin-CDK complex = need no form to trigger passage thru to next stage. inactivated = apoptosis gene activated.
cell cycle control abnormalities = what disease?
cancer
