Tay-Sachs Disease

huntington disease nk cells phagocyte lens placode lysis mcdb 138 missense mutation class i knockout mcdbio 138 one-way mixed-lymphocyte reaction programmed cell death diencephalon conjugation 3h thymidine lipid bilayer mhc primary cell line fluid mosaic model phenylketonuria c1q post capillary venule e1a trisomy cdk4 cytotoxin cytogenetics genetics mcdbio cm156 mutation Antibody-Dependent Cell Mediated Cytotoxicity courtney love samantha wieschaus oxidase test optic vesicle biosafety hood transformed cell line severe combined immunodeficiency disorder scid hemoglobin k mRNA plasmid nobody's daughter dirty girls lymph node Immune System stem cell ls3 ucla tetrahydrobiopterin courtney love lysosome life sciences 2 evolutionary chronometer lipid raft c5 convertase duchenne muscular dystrophy ls4 ucla cystic fibrosis chromosome banding Virology t cell receptor congenital heart defect mac cytokines map distance exon one-way mlr Mitosis testes determining factor hemoglobin h cdk10 lipopolysaccharide hemoglobin rag knockout cyclin t1 mcd bio cm156 chromium-51 basophil mimg 168 hba phagosome mucopolysaccharidose segment polarity gene phenylalanine hydroxylase ucla ls4 hydroxylase deficiency spontaneous generation agarose escherichia coli rag-1 knockout mimg 185 courtney love pacific coast highway helper t cell evolutionary chronometers positive selection t cell transgenic live model cluster of differentiation c3 convertase pattern recognition receptor mast cell cAMP production intron cd4 high-resolution banding alternative splicing rag-1 lod score ls2 down syndrome spliceosome immunology interleukins hardy-weinberg equilibrium hemoglobin c pcr pepsin cleavage complement cascade eyeless chromosome 13 courtney love left in the dark dmd g banding rag-2 knockout cdk3 courtney love happy ending story delayed-type hypersensitivity non-PKU hyperphenylalaninemia spinal muscular atrophy c5 binary fission cyclin d1 cdk9 f(c)γ cyclin t2a cyclin l cytotoxic natural killers cdk1 invasins ectodermal placode nonsense mutant Animalia complement system pre-mRNA mixed-lymphocyte reaction hunter syndrome high copy suppressor experiment class ii knockout lens vesicle linkage analysis h3 thymidine angelman opsonization drosophila sex-lethal protein ls4 mimg 103l chlorophyll lymph membrane attack complex quinacrine double-positive cyclin t2b fc receptor cyclin d3 phagocytosis nobody's daughter samantha p53 hematopoiesis cyclin k spirochetes genomic imprinting pax6 thalassemia extravasation smn1 gene enrichment mimg 102 cdc28 phagolysosome ucla ls2 quinacrine mustard glossary exponential growth cyclin b virulence factors cortical epithelial cell zinkernagel mdcbio cm156 dystrophin Nas51CrO4 mcd bio 138 cell cycle class ii itam hemoglobin m sex chromosome splicing mcbdio cm156 cyclin d2 hydatidiform mole murine model zygotic lethal mimg 101 hyperphenylalaninemia tcr il-6 knockout kni cyclin-dependent kinase point mutation doubling time neutrophil cyclin inverted microscope natural killer cells innate immunity cdk6 ames test mimg 185a sry cml eosinophil genetic screen monocyte nkg2a hla tissue culture adcc mice adherence factors papain cleavage trisomy 13 snRNA immunoreceptor tyrosene-based activation motif retinoblastoma cdk2 pre-TCR deletion hemoglobin e aneuploidy u-tube flask hemoglobinopathy class iii axonal pathfinding polymerase chain reaction nusslein-volhard sex determining region on the y chromosome mlr snRNP genomics mast cell sunset marquee cytoplasm ucla ls3 r banding even-skipped cdk11 c3 cyclin e frameshift e2f otic placode apoptosis pili giemsa cyclin a immune sytem one-way mixed-leukocyte reaction enterotoxin nonsense mutation mixed-leukocyte reaction recombination frequency tlr p35 antigen optic stalk variant PKU pair-rule gene courtney love stand up motherfucker cdk7 virulence factor nasal placodes cortical region Central Dogma smn2 gene self mhc restriction nobody's daughter tay-sachs disease rag-1/2 autotroph self-tolerance oxyhemoglobin hemoglobin kempsey fcgamma fragile x syndrome Cell-Mediated Lympholysis Assay scheie syndrome disulfide cleavage hbs mimg 132 insertion coliform missense hemoglobin s toll like receptor cdk car crash mcdb cm156 toxins Mammalian centimorgan rna splicing class i mucopolysaccharide rag-2 molecular cell developmental biology population dynamics Lymphatic System genetic variation c8 knirps mouse model thymocyte gap gene dendritic cell cdk5 courtney love dirty girls b cell hemoglobin hyde park frame shift agar sickle cell disease enzymopathy doherty biofilms NK cell huntingtin single-positive x-linked trisomy 18 double-negative hurler syndrome mhc restriction generation h2 immunoreceptor tyrosene-based inhibitor motif major histompatibility complex cd94 chromosome 18 tdf antibody q banding prader willi protoplasm cdk8 louis pasteur cytochrome c CAG repeat nkg2d courtney love letter to god prototroph interrupted mating experiment inflammation mimg c banding 51Cr transgene bubble boy negative selection methemoglobin

Tay-Sachs Disease

Lysosomes are membrane-bound organelles which contain hydrolases that degrade unneeded proteins and infectious bacteria. When these substrates accumulate without degradation inside the lysosome, the cells die lysosomal storage diseases (a subset of enzymopathies ensue. Affected tissues grow noticeably large, and mental dysfunction occurs in diseased brains. Tay-Sachs disease is a group of disorders where hexosaminidase A (hexA) cannot degrade the sphingolipid GM₂ ganglioside. Since GM₂ ganglioside synthesis is most prevalent in the brain, it is most severely affected by Tay-Sachs.

hexANormal hexA consists of α and β subunits (encoded by HEXA and HEXB) that associates with an activator protein to cleave GM₂ ganglioside. Disruption of the α subunit leads to Tay-Sachs disease; disruption of the β subunit o the activator protein leads to, respectively, Sandhoff disease and activator protein deficiency. Tay-Sachs homozygotes are clinically normal at first, but mentally deteriorate by 3-6 months of age and die by 2-4 years. HEXA alleles with some residual activity can lead to late onset, motor dysfunction, psychosis or sometimes no disease at all.

Filed Under:	Clinical Study
Tagged With:	enzymopathy, mcdbio cm156, tay-sachs disease, ucla ls4