Diseases Flashcards
Gout
accum of uric acid, painful joints
Severe combined immunodeficiency disease (SCID)
def in adenosine deaminase, accumulation of deoxyadenosie and deriv (dATP), loss of immune system- no T or B cells
Immunodeficiency diseases
def in purine nucleoside phosphorylase, accum of purine nucleotides, dec prolif/toxicity of T cells
Lesch Nyhan syndrom
def in HGPRT, accum of purines and uric acid, mental retardation, self mutilation, gout
Hereditary orotic aciduria
def in UMP synthase, accum of orotic acid, growth retardation
Xanthinuria
def in xanthine oxidase, accum of xanthine and hypoxanthine, stones
Exercise induced myopathy
def in AMP deaminase, fatigue and muscle cramping
Thalassemias
point mutation in TATA box
Sickle cell anemia
Missense mutation (GTG replaces normal GAG) in sickle cell gene on B-globin allele, agg of insoluble fibers on deoxygenated RBCs changing the shape of RBC to sickle shape
Streptomycin
distorts structure of 30S, interferes with initiation of translation, misreading of mRNA, can cause permanent hearing loss, used to treat TB
tetracyclines
interact with small ribo subunits, block access of aminoacyl tRNA to mRNA complex- cant elongate
Chloramphenicol
inhib pro peptidyltransferase, can also inhib mito peptidyl- if in high concentrations
Clindamycin and erythromycin
irrev bind to 50S of bacterial ribo- inhibi translation
Diphtheria Toxin
inact euk elongation factor, eEf-2, prevent transla
Ricin
in seeds of castor oil plant, highly potent toxin, contains N glycosylase activity- cleavage of glycosidic bonds w/in 60S, inactivated ribo
Scurvy
vit c def, less stable collagen (not stabilized by hydroxylation), dec RBC, gum disease, poor wound healing
Klienefelter syndrome
47, XXY (48XXXY or 48 XXYY or 49XXXYY) tall feminine like stature, hypogonadism (infertile), learning deficits
turner syndrom
45, X, short stature, streak gonads, no puberty, infertile, some learning difficulties, webbed neck, wide chest, edema
XYY syndrome
tall male, normal sex dev and intelligence, freq behavioral problems
Trisomy X
tall female, normal sex dev, some learning difficulties, occasional behavioral problems
tumor
tissue with abnormally high cell number (neoplasm), no metas properties
cancer
malignant tumor that invades other tissues (metastasize)
founder effect- old order amish
ellis van crefeld syndrome (dwarfism and polydactily)
founder effect- small encalve in Quebec
I cell disease (lysosomal storage disease), type I tryosinemia (deficient Tyr degradation)
founder effect- ashkenazi jews
tay sachs disease, gaucher disease (sphingolipidosis, lysosomal sotrage diseases)
autosomal recessive diseases
cystic fibrosis (chloride ion channel def), sickle cell disease (hemoglobin mutation), phenylketonuria (phe meta def), tay sachs/gaucher disease (lysosomal glycolipid degrad def)
incomplete dominant inheritance disease
achrondroplasia- hetero isnt as bad as homo
achondroplasia
gain of fx mut in fibroblast growth factor receptor 3, hetero: abnormal bone growht, short stature, large hear, normal intell, normal lifespan, homo- more severe bone def, early death
neurofibromastosis type 1: inher, cause, pheno
incomplete dominance on auto dom, 50% due to new mutations, usual pheno: cafe au lait spots, fleshy benign skin tumors, less freq (more severe): malignant peripheral nerve sheath tumors
autosomal dominant diseases
familial hypercholesteremia, achondroplasia, huntington disease, hereditary breast and ovarian cancer, familial adenomatous polyposis (colon cancer), Rb, neurofibromatosis type 1
x linked recessive diseases
hemophilia A and B (coagulation factor 8 and 9 def), glu 6 P dehydrogenase def (acute hemolytic anemia), ornithine transcarbamoylase def (urea cycle), duchenne muscular dystrophy (dystrophin gene defects)
x linked dominant disease
rett syndrome, fragile x syndrome, vitamin D resistant rickets
rett syndrome
x linked rec, male lethality, developmental stagnation, intell dis, flapping movement of hand, female survive- x inactviation
pseudoautosomal inheritance
dyschondrosteosis (short stature)
angelman syndrome
delet in maternal chromo 15, loss of UBE3A function, intellec dis, happy demeanor, balance disorder, speech impairment
prader willi syndrome
delet in paternal chormo 15, loss of polycistronic RNA or other genes, intellec dis, obesity, short stature, hypogonadism
Huntington disesase
auto rec, neurodegenerative disorder, CAG repeats in coding region of huntingtin gene, over 35 repeats- disease (under 35 normal), larger # of repeats- earlier onset
fragile X syndrome
x dom, excessive CGG repeats in promoter of FMR1 gene and silence gene, FMR1- translational reg in neurons, X chromo condensation defect
Friedreich ataxia
auto rec, excess GAA in intron of frataxin gene- mito protein invovled in Fe meta, impair transc elongation
friedreich ataxia symptoms
spinocerebella ataxia- incoord of limb movement, impairment of position and vinratory senses, speech impairment, scoliosis, cardiomyopathy
mitochondrial disease
OXPHOS diseses such as Leber hereditary optic neuropathy (NADH reductase def)- optic atrophy, loss of vision
venous thrombosis: susceptibility genes, environ factors
multctorial disease, ifaexces blood clot formation, susceptibillity genes: factor V and prothrombin (gain of fx mut), environmental factors- oral contraceptives (estrogen), smoking, prolonged inactivity, trauma
type I diabetes: susceptibility genes, environ factors
multifactorial, autoimmune destruc of panc b cells- insulin def, susc: major histocompatibility complex (MHC) loci (HLA DR), environ: early viral infections, early exposuure to cows milk
coronary artery disease: susceptibility genes, environ factors
mutifactorial, susc: apolipoprioteins, LCL receptor, coagulation factors, angiotensin converting enzymes
- many genes act through HT, obesity, diabetes
- environ: diet, smoking, lack of movement
late onset alzheimers: susceptibility genes, environ factors
susc gene: apolipoprotein E (e4 isoform)- in amyloid precipitates
-risk factors: age, sex (female), brain injury
lung cancer: susceptibility genes, environ factors
susu: aryl hydrocarbon hydroxylase, envir: cigarette smoke
