Qhov sib txawv tseem ceeb ntawm Tay-Sachs thiab Sandhoff tus kab mob yog Tay-Sachs kab mob yog ib qho kev cia siab ntawm lysosomal uas yog vim qhov tsis txaus ntawm β-hexosaminidase A enzyme, thaum Sandhoff kab mob yog ib qho mob lysosomal khaws cia vim qhov tsis muaj peev xwm ntawm β-hexosaminidase A enzyme. deficiency ntawm β-hexosaminidase A thiab β-hexosaminidase B enzymes.
Gangliosides yog complex sphingolipids nyob rau hauv lub hlwb. Muaj ob hom loj: GM1 thiab GM2. Ob hom no tuaj yeem koom nrog hauv lysosomal cia mob. GM2 gangliosidoses yog ib pab pawg ntawm peb cov kab mob uas muaj feem cuam tshuam nrog cov kab mob uas tsis muaj peev xwm ntawm β hexosaminidase ua rau GM2 ganglioside nyob rau hauv lub hlwb. Peb cov kab mob no paub zoo dua los ntawm lawv cov npe: Tay-Sachs kab mob, AB variant, thiab Sandhoff disease.
Tay-Sachs Disease yog dab tsi?
Tay-Sachs tus kab mob yog ib qho mob lysosomal cia uas tshwm sim vim qhov tsis txaus ntawm β-hexosaminidase A enzyme. Nws yog ib qho autosomal recessively inherited genetic disorder uas ua rau kev puas tsuaj ntawm paj hlwb nyob rau hauv lub hlwb thiab qaum qaum. Daim ntawv tshaj plaws yog infantile Tay-Sachs kab mob. Qhov no tshwm sim nyob ib ncig ntawm peb mus rau rau lub hlis thaum me nyuam mos poob lub peev xwm tig, zaum, lossis nkag. Tom qab ntawd, qhov no yog ua raws li qaug dab peg, hnov lus tsis zoo, thiab tsis muaj peev xwm txav mus los, nrog kev tuag tshwm sim thaum muaj hnub nyoog peb txog tsib xyoos. Cov ntaub ntawv tsawg dua yog tus kab mob Tay-Sachs tom qab thaum yau los yog neeg laus (cov menyuam yaus los yog lig pib). Cov ntaub ntawv no zoo li tsis tshua muaj hnyav. Txawm li cas los xij, daim ntawv menyuam yaus feem ntau ua rau muaj hnub nyoog 15 xyoos tuag. Tus kab mob no muaj kev koom nrog haiv neeg. Nws tsis tshua muaj nyob rau hauv cov pej xeem. Tab sis nyob rau hauv Ashkenazi cov neeg Yudais, Fabkis Canadians ntawm sab qab teb sab hnub tuaj Quebec, Old Order Amish ntawm Pennsylvania, thiab Cajuns ntawm yav qab teb Louisiana, tus mob no ntau dua.
Tay-Sachs kab mob yog tshwm sim los ntawm kev hloov pauv ntawm cov noob caj noob ces ntawm HEXA gene ntawm chromosome 15. Cov noob no encodes rau subunit ntawm β-hexosaminidase A enzyme. Qhov kev hloov pauv cuam tshuam rau kev ua haujlwm enzyme, uas ua rau tsim GM2 ganglioside hauv lub hlwb thiab qaum qaum. Qhov no ua rau toxicity. Cov kab mob no tuaj yeem kuaj tau los ntawm kev ntsuas cov ntshav β-hexosaminidase A qib, kev tshuaj xyuas microscopic ntawm retinal neuron, thiab kuaj cov caj ces. Tsis tas li ntawd, cov kev kho mob ua tau rau tus kab mob Tay-Sachs suav nrog kev kho enzyme hloov pauv, kho substrate txo qis, nce β-hexosaminidase A kev ua los ntawm cov tshuaj pyrimethamine, hloov ntshav qaum, thiab kho noob.
Tus Kab Mob Sandhoff yog dab tsi?
Sandhoff tus kab mob yog ib qho mob lysosomal uas tshwm sim vim qhov tsis txaus ntawm β-hexosaminidase A thiab β-hexosaminidase B enzymes. Muaj qhov sib xyaw ua ke β-.hexosaminidase A thiab B deficiency hauv tus kab mob no. Kev kho mob tshwm sim ntawm tus kab mob no suav nrog kev loj hlob ntawm cerebral degeneration pib ntawm 6 lub hlis, uas yog nrog rau qhov muag tsis pom, cherry-liab macular chaw, thiab hyperacusis. Muaj peb hom: daim ntawv me me uas tshwm sim hauv 2 mus rau 9 lub hlis ntawm hnub nyoog, daim ntawv menyuam yaus uas tshwm sim hauv cov menyuam yaus hnub nyoog 3 txog 10 xyoo, thiab cov neeg laus daim ntawv uas tshwm sim hauv cov laus. Classic infantile daim ntawv ua rau tuag thaum muaj hnub nyoog 3, thaum cov menyuam yaus daim ntawv ua rau tuag thaum muaj hnub nyoog 15. Tsis tas li ntawd, nws tseem tsis tau paub tias tus kab mob no yuav ua rau lub neej luv luv ntawm cov neeg laus. Muaj kev cuam tshuam visceral (hepatomegaly thiab pob txha hloov) hauv tus kab mob no. Txawm li cas los xij, tsis muaj lub koom haum haiv neeg rau tus kab mob Sandhoff
Kev kuaj mob ntawm tus kab mob no tuaj yeem ua los ntawm kev sim cov haujlwm ntawm β-hexosaminidase A thiab B (enzyme kev soj ntsuam) thiab lawv qib hauv cov ntshav. Kev kuaj caj ces ntawm HEXB noob kuj tuaj yeem siv los txheeb xyuas qhov kev kuaj mob. Lwm txoj kev kuaj mob muaj xws li daim siab biopsy, kev tshuaj ntsuam molecular ntawm cov hlwb thiab cov ntaub so ntswg los txiav txim seb muaj cov kab mob metabolic, thiab kev tsom xam cov zis. Tsis tas li ntawd, cov kev xaiv kho mob rau tus kab mob Sandhoff tuaj yeem suav nrog kev siv cov tshuaj tiv thaiv kab mob kom txo qis qaug dab peg, noj cov zaub mov zoo, kev txhawb nqa ua pa rau cov menyuam yaus, cov tshuaj xws li N-butyl deoxynojirimycin, thiab kev kho noob.
Dab tsi zoo sib xws ntawm Tay-Sachs thiab Sandhoff Kab Mob?
- Tay-Sachs thiab Sandhoff kab mob yog ob hom GM2 gangliosidoses.
- Nyob rau hauv ob yam kab mob, GM2 gangliosides accumulates nyob rau hauv neuronal hlwb.
- Ob kab mob yog vim tsis muaj ob hom β-hexosaminidase
- Lawv yog cov kab mob genetic disordered hauv tus qauv autosomal recessive.
- Ob kab mob muaj peb hom: menyuam mos, menyuam yaus, thiab neeg laus pib.
- Lawv qhia cov tsos mob zoo sib xws.
- Ntxiv mus, lawv tuaj yeem kho tau los ntawm kev kho noob.
Qhov txawv ntawm Tay-Sachs thiab Sandhoff Disease yog dab tsi?
Tay-Sachs tus kab mob yog ib qho mob lysosomal khaws cia uas tshwm sim vim qhov tsis txaus ntawm β-hexosaminidase A enzyme thaum Sandhoff kab mob yog ib qho lysosomal storage disorder uas tshwm sim vim qhov tsis txaus ntawm β-hexosaminidase A thiab β-hexosaminidase. B enzymes. Yog li, qhov no yog qhov sib txawv tseem ceeb ntawm Tay-Sachs thiab Sandhoff kab mob. Tsis tas li ntawd, tus kab mob Tay-Sachs yog vim qhov kev hloov ntawm cov noob caj noob ces ntawm HEXA gene, thaum Sandhoff kab mob yog vim kev hloov ntawm cov noob caj noob ces ntawm HEXB gene.
Cov duab hauv qab no nthuav tawm qhov sib txawv ntawm Tay-Sachs thiab Sandhoff tus kab mob hauv daim ntawv teev npe rau ib sab ntawm kev sib piv.
Summary – Tay-Sachs vs Sandhoff Disease
Tay-Sachs thiab Sandhoff tus kab mob yog ob hom lysosomal cia mob uas tshwm sim vim qhov sib txuam ntawm GM2 ganglioside. Tay-Sachs kab mob yog vim qhov tsis txaus ntawm β-hexosaminidase A enzyme, thaum Sandhoff kab mob yog vim qhov tsis txaus ntawm β-hexosaminidase A thiab β-hexosaminidase B enzymes. Yog li, qhov no yog qhov sib txawv tseem ceeb ntawm Tay-Sachs thiab Sandhoff tus kab mob.
