Qhov sib txawv tseem ceeb ntawm TSC1 thiab TSC2 yog tias TSC1 yog cov noob nyob rau hauv chromosome 9 uas ua rau tuberous sclerosis complex genetic disorder, thaum TSC2 yog cov noob nyob rau hauv chromosome 16 uas ua rau tuberous sclerosis complex genetic disorder.
Tuberous sclerosis complex (TSC) yog ib yam kab mob caj ces. Nws yog tshwm sim los ntawm kev hloov pauv hauv ib qho ntawm ob lub noob muaj nyob hauv txhua lub hlwb ntawm tib neeg lub cev. Qhov teeb meem no yog tshwm sim los ntawm kev loj hlob ntawm ntau (benign) qog nyob rau hauv ntau qhov chaw ntawm lub cev, nrog rau lub hlwb, ob lub raum, lub plawv, daim tawv nqaij, thiab lwm yam kabmob. TSC1 thiab TSC2 yog ob lub noob tseem ceeb uas yog lub luag haujlwm rau tuberous sclerosis complex.
TSC1 yog dab tsi?
TSC1 yog cov noob uas ua rau tuberous sclerosis complex genetic disorder. Cov noob no nyob ntawm chromosome 9. Nws codes rau cov protein hu ua hamartin. Hamartin tseem hu ua tuberous sclerosis 1 (TSC1) protein. Hamartin protein ua hauj lwm raws li ib tug co-chaperone uas inhibits lub ATPase kev ua ntawm tus chaperone Hsp90 thiab decelerates nws chaperone voj voog. Ntxiv mus, hamartin protein ua haujlwm ua tus pab txhawb nqa ntawm Hsp90 hauv cov neeg siv khoom kinase thiab cov neeg tsis yog kinase, suav nrog TSC2. Qhov no tiv thaiv lawv ubiquitination thiab degradation nyob rau hauv lub proteasome. Hamartin (TSC1), TSC2, thiab TBC1D7 tsim ntau cov protein ntau hu ua TSC complex. Qhov kev ua haujlwm tsis zoo no tswj hwm mTORCI signaling los ntawm kev ua haujlwm raws li GTPase activating protein (GAP) rau me me GTPase Rheb. GTPase Rheb yog ib qho tseem ceeb activator ntawm mTORC1. TSC complex uas muaj cov protein ntau hamartin tau cuam tshuam raws li cov qog nqaij hlav.
Figure 01: TSC1
Qhov tsis xws luag (kev hloov pauv) hauv TSCI noob tuaj yeem ua rau tuberous sclerosis vim kev ua haujlwm tsis zoo ntawm TSC complex. Qhov tsis xws luag hauv TSCI noob kuj tseem tuaj yeem ua rau focal cortical dysplasia. Tsis tas li ntawd, hamartin protein kuj tseem tuaj yeem koom nrog hauv kev tiv thaiv lub hlwb neurons hauv thaj tsam CA3 ntawm hippocampus los ntawm cov teebmeem ntawm stokes.
TSC2 yog dab tsi?
TSC2 yog cov noob uas ua rau tuberous sclerosis complex genetic disorder. Cov noob no nyob ntawm chromosome 16. TSC2 noob ib txwm muab cov lus qhia rau kev tsim cov protein hu ua tuberin. Hauv cov hlwb, tuberin cuam tshuam nrog hamartin, uas yog tsim los ntawm TSC1 noob. Ob qho proteins no pab tswj kev loj hlob ntawm tes thiab kev faib (proliferation) thiab cell loj. Cov proteins no feem ntau tiv thaiv cov hlwb los ntawm kev loj hlob thiab sib faib nrawm heev lossis hauv txoj kev tsis tswj hwm. Yog li, lawv ua hauj lwm raws li qog suppressor proteins.
Figure 02: TSC2
Tuberin thiab hamartin ua rau lawv cov qog nqaij hlav ua haujlwm los ntawm kev cuam tshuam nrog thiab tswj ntau yam ntawm lwm cov proteins. Cov kab mob TSC2 tsis zoo ua rau muaj kab mob ntsws tsawg hu ua lymphangioleiomyomatosis (LAM). Tsis tas li ntawd, qhov tsis zoo TSC2 noob kuj ua rau tuberous sclerosis complex uas ua rau cov qog nqaij hlav loj hlob hauv ntau qhov chaw ntawm lub cev.
TSC1 thiab TSC2 yog dab tsi?
- TSC1 thiab TSC2 yog ob lub noob tseem ceeb uas muaj lub luag haujlwm ua rau tuberous sclerosis complex genetic disorders.
- Ob lub noob tsim cov proteins uas ua raws li cov qog nqaij hlav.
- Lawv cov proteins yog cov khoom tseem ceeb ntawm TSC complex.
- Ob lub noob tuaj yeem hloov mus ua lwm yam kab mob ib yam nkaus.
Qhov txawv ntawm TSC1 thiab TSC2 yog dab tsi?
TSC1 yog cov noob nyob rau hauv chromosome 9 uas ua rau tuberous sclerosis complex genetic disorder, thaum TSC2 yog ib tug noob nyob rau hauv chromosome 16 uas ua rau tuberous sclerosis complex genetic disorder. Yog li, qhov no yog qhov sib txawv tseem ceeb ntawm TSC1 thiab TSC2. Tsis tas li ntawd, TSC1 gene codes rau cov protein hu ua hamartin, thaum TSC2 noob codes rau cov protein hu ua tuberin. Yog li, qhov no kuj yog qhov sib txawv tseem ceeb ntawm TSC1 thiab TSC2.
Cov hauv qab no infographic nthuav tawm qhov sib txawv ntawm TSC1 thiab TSC2 hauv daim ntawv tabular rau ib sab ntawm kev sib piv.
Summary – TSC1 vs TSC2
TSC1 thiab TSC2 yog ob lub noob tseem ceeb hauv txhua lub cev hlwb. Lawv code rau cov proteins uas yog cov khoom tseem ceeb ntawm TSC qog suppressor complex. Lawv qhov kev hloov pauv tuaj yeem ua rau muaj kab mob caj ces hu ua tuberous sclerosis complex. TSC1 noob nyob rau hauv chromosome 9, thaum TSC2 noob nyob rau hauv chromosome 16. Yog li, qhov no yog cov ntsiab lus ntawm qhov sib txawv ntawm TSC1 thiab TSC2.
