EXAM 1 Diseases Flashcards
Neurotropic Viruses
Infects nerve cells by exploiting the neuron’s microtubule transport system, to reach cell bodies.(via retrograde travel)
Niemann-Pick disease
lysosomes have defective sphingomyelinase,
causing accumulation of sphingomyelin and cholesterol in the spleen and CNS.
Gouchers Disease
glucocerebrosides accumulate in cells and organs
lysosome
Familial Hypertrophic Cardiomyopathy
Mutation in cardiac actin that is autosomal dominant
Kartagener’s syndrome
Absence of dynein arms for axonemal motility, so like you get sinus inversus and also immotile cilia syndrome.
Progressive Multifocal Encephalopathy
viral infection of oligodendrocytes in patients with immunodeficiency
Epidermis Bullosa Simplex
mutation of keratin in genes result in skin that breaks easy and you die super young due to bacteria.
Immotile Cilia Syndrome
Body wide defect on the entire axoneme, resulting in obstructive lung disease(impaired conciliatory escalator) and sterility.
Zellweger’s Syndrome
buildup of long chain fatty acids from no beta oxidation, autosomal recessive.myelin breakdown throughout the body and accumulation of toxic substances.
Guillain-Barré syndrome
a PNS autoimmune demyelinating disease
Multiple Sclerosis
CNS demyelinating disease. Patients have increase in antibodies in Cerebrospinal Fluid and abnormal Patients have increase in antibodies in Cerebrospinal Fluid and abnormal T cell function
Tay sachs disease
where lysosomes lack
hexosaminidase A and B that breaks down gangliosides,
which causes them to accumulate in the CNS causing problems.
Pathogens Hijacking Translocation
Pathogens can take advantage of endogenous actin in cells. Bacteria have also evolved to make an actin nucleation side that can propel itself inside the cell and engulf the host cell.
Phalloidin
toxin that irreversibly binds to actin filaments which stabilizes.First fucks up the Gi tract due to microvilli.
Progeria
mutation in lamin protein causing premature cellular senescence. Lamins are intermediate filaments in the nucleus. Senescence is permanent cell cycle arrest in a cell.
