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Cell Biology Genetics, X-linked Adrenoleukodystrophy -peroxisomes-single membrane-bound -ADL gene encodes perox. memb. protein to xport long-chain fatty acyl CoA synthase -peroxisomes can't ox. VLC fatty acids -very long chain fatty acids build up ->cell damage, esp. neurons ???? -Lorenzo's Oil -oleic, euric acid -reduce, delay Sx in boys -adrenal hormones lifesaving, Lysosomes-intracel digestion, pH~5 -enzymes for all biomolecs. -mucopolysaccharides-accum GAGs Hurler, Hunter syns -sphingolipidoses Tay-Sachs, Gaucher, other gang'sides -glycogen accum Pompe Dz -I-cell dz -lack multiple lysosomal enzymes -defect in M6P lysosome targeting ???? MPS I-Hurler-Scheie -def a-L-iduronidase -GAGs accumulate in spleen, liver, CT in brain, cornea by 2-3yo -DD, large tongue, stiff jts -ear infections->hearing loss -hurler more severe, scheie less -early mortality, heterogenous MPS II-Hunter-X-LINKED MPSIII-Sanfilippo-neuro, MPS I-Hurler-Scheie -def a-L-iduronidase -GAGs accumulate in spleen, liver, CT in brain, cornea by 2-3yo -DD, large tongue, stiff jts -ear infections->hearing loss -hurler more severe, scheie less -early mortality, heterogenous MPS II-Hunter-X-LINKED MPSIII-Sanfilippo-neuro ???? Tx-ERT, Sx management -Aldurazyme -bone marrow xplant if very serious -not curative, slows progression -may preserve CNS fcn -HIGH RISK, Tay Sachs -def. in b-hexosaminidase A -can't hydrolyze ganglioside GM2 -infant devel. retardation, blindness, paralysis, dementia -death in 2nd/3rd year -can be screened and prevented Due to defect at diff. points in oligosacc digestion Gaucher- esp in Ash. Jews MOST PREVALENT STORAGE DZ -def. in b-glucosidase -can't break oligosaccs -esp in macrophages of reticuloendoth -hepatosplenomegaly -anemia, thrombocytopenia due to bone marrow -some w/ CNS involvement -enzyme replacement therapy, Cystic Fibrosis -AUTOSOMAL RECESSIVE -euro. origin -CFTR gene->cAMP Cl channel in epith cells -mostly F508 mutation- class II-def. processing -stays in ER, degraded -BALANCED POLYMORPHISM -typhoid, bac. pathogens ???? Tx-live til 40s now -only cure-gene therapy (nonexistent) -now treat Sx-albuterol, mucus thinners antibiotics, Lysosomes-intracel digestion, pH~5 -enzymes for all biomolecs. -mucopolysaccharides-accum GAGs Hurler, Hunter syns -sphingolipidoses Tay-Sachs, Gaucher, other gang'sides -glycogen accum Pompe Dz -I-cell dz -lack multiple lysosomal enzymes -defect in M6P lysosome targeting ???? Gaucher- esp in Ash. Jews MOST PREVALENT STORAGE DZ -def. in b-glucosidase -can't break oligosaccs -esp in macrophages of reticuloendoth -hepatosplenomegaly -anemia, thrombocytopenia due to bone marrow -some w/ CNS involvement -enzyme replacement therapy, 6 connexins(20 types)=connexon 1 connexon from each cell connect =gap jcn ???? X-linked Charcot-Marie-Tooth Dz -defect in connexin 32 in Schwann cells ->defective myelin ->motor, sensory neuropathies, Genetics of Cell Biology Lysosomal Storage Dzs MOST AUTO RECESSIVE Lysosomes-intracel digestion, pH~5 -enzymes for all biomolecs. -mucopolysaccharides-accum GAGs Hurler, Hunter syns -sphingolipidoses Tay-Sachs, Gaucher, other gang'sides -glycogen accum Pompe Dz -I-cell dz -lack multiple lysosomal enzymes -defect in M6P lysosome targeting, Genetics of Cell Biology Peroxisomal Dzs X-linked Adrenoleukodystrophy -peroxisomes-single membrane-bound -ADL gene encodes perox. memb. protein to xport long-chain fatty acyl CoA synthase -peroxisomes can't ox. VLC fatty acids -very long chain fatty acids build up ->cell damage, esp. neurons, Lysosomes-intracel digestion, pH~5 -enzymes for all biomolecs. -mucopolysaccharides-accum GAGs Hurler, Hunter syns -sphingolipidoses Tay-Sachs, Gaucher, other gang'sides -glycogen accum Pompe Dz -I-cell dz -lack multiple lysosomal enzymes -defect in M6P lysosome targeting ???? Tay Sachs -def. in b-hexosaminidase A -can't hydrolyze ganglioside GM2 -infant devel. retardation, blindness, paralysis, dementia -death in 2nd/3rd year -can be screened and prevented