Identification of molecular pathophysiological mechanisms of non-alcoholic fatty liver disease (NAFLD)

6533b822fe1ef96bd127d0ae

RESEARCH PRODUCT

Identification of molecular pathophysiological mechanisms of non-alcoholic fatty liver disease (NAFLD)

ĒRiks ŠMagris

subject

NATAS Internal Medicine Medicine PNPLA3 TM6SF2 Medicīna

description

Alkohola neizraisītā taukaino aknu slimība (NATAS) ietver plaša spektra izmaiņas aknās: no pārmērīgas tauku uzkrāšanās līdz pat cirozei. NATAS ģenētiskās komponentes noteikšanai tika veikta visa genoma asociāciju pētījumus (GWAS). Polimorfismi Pnpla3 (I148M; rs738409) un Tm6sf2 (E167K; rs58542926) gēnos ir asociēti ar paaugstinātu lipīdu uzkrāšanos aknās. PNPLA3 I148M varianta proteīns pastiprināti uzkrājas uz šūnu tauku lodīšu virsmas, kas traucē tauku lodīšu normālu funkciju. Proteīna TM6SF2 167K variants izraisa proteīna nestabilitāti un ātrāku tā degradāciju. Tālākie pētījumi parāda, ka TM6SF2 ir saistīts ar aknu ļoti zema blīvuma lipoproteīnu (VLDL) veidošanu vai ekskrēciju. Izpratne par ģenētiskiem un patofizioloģiskiem iemesliem nākotnē varētu palīdzēt radīt NATAS preventīvas un ārstnieciskas metodes.

year	journal	country	edition	language
2018-01-01

https://dspace.lu.lv/dspace/handle/7/38327

PEPhysical Sciences and Engineering
- PE2Fundamental Constituents of Matter
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  - PE2_2 Phenomenology of fundamental interactions
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  - PE2_6Nuclear, hadron and heavy ion physics
  - PE2_8Gas and plasma physics
  - PE2_5Classical and quantum physics of gravitational interactions
  - PE2_7Nuclear and particle astrophysics
  - PE2_9 Electromagnetism
  - PE2_10Atomic, molecular physics
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  - PE2_18Equilibrium and non-equilibrium statistical mechanics: steady states and dynamics
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  - PE2_17Metrology and measurement
  - PE2_16Non-linear physics
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  - PE2_13Quantum optics and quantum information
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- PE1Mathematics
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