• Je něco špatně v tomto záznamu ?

Functional Characterization of Rare Variants in OAT1/SLC22A6 and OAT3/SLC22A8 Urate Transporters Identified in a Gout and Hyperuricemia Cohort

J. Vávra, A. Mančíková, K. Pavelcová, L. Hasíková, J. Bohatá, B. Stibůrková

. 2022 ; 11 (7) : . [pub] 20220322

Jazyk angličtina Země Švýcarsko

Typ dokumentu časopisecké články

Perzistentní odkaz   https://www.medvik.cz/link/bmc22019139

The OAT1 (SLC22A6) and OAT3 (SLC22A8) urate transporters are located on the basolateral membrane of the proximal renal tubules, where they ensure the uptake of uric acid from the urine back into the body. In a cohort of 150 Czech patients with primary hyperuricemia and gout, we examined the coding regions of both genes using PCR amplification and Sanger sequencing. Variants p.P104L (rs11568627) and p.A190T (rs146282438) were identified in the gene for solute carrier family 22 member 6 (SLC22A6) and variants p.R149C (rs45566039), p.V448I (rs11568486) and p.R513Q (rs145474422) in the gene solute carrier family 22 member 8 (SLC22A8). We performed a functional study of these rare non-synonymous variants using the HEK293T cell line. We found that only p.R149C significantly reduced uric acid transport in vitro. Our results could deepen the understanding of uric acid handling in the kidneys and the molecular mechanism of uric acid transport by the OAT family of organic ion transporters.

Citace poskytuje Crossref.org

000      
00000naa a2200000 a 4500
001      
bmc22019139
003      
CZ-PrNML
005      
20220804135403.0
007      
ta
008      
220720s2022 sz f 000 0|eng||
009      
AR
024    7_
$a 10.3390/cells11071063 $2 doi
035    __
$a (PubMed)35406626
040    __
$a ABA008 $b cze $d ABA008 $e AACR2
041    0_
$a eng
044    __
$a sz
100    1_
$a Vávra, Jiří $u Department of Cell Biology, Faculty of Science, Charles University, Vinicna 7, 128 43 Prague, Czech Republic
245    10
$a Functional Characterization of Rare Variants in OAT1/SLC22A6 and OAT3/SLC22A8 Urate Transporters Identified in a Gout and Hyperuricemia Cohort / $c J. Vávra, A. Mančíková, K. Pavelcová, L. Hasíková, J. Bohatá, B. Stibůrková
520    9_
$a The OAT1 (SLC22A6) and OAT3 (SLC22A8) urate transporters are located on the basolateral membrane of the proximal renal tubules, where they ensure the uptake of uric acid from the urine back into the body. In a cohort of 150 Czech patients with primary hyperuricemia and gout, we examined the coding regions of both genes using PCR amplification and Sanger sequencing. Variants p.P104L (rs11568627) and p.A190T (rs146282438) were identified in the gene for solute carrier family 22 member 6 (SLC22A6) and variants p.R149C (rs45566039), p.V448I (rs11568486) and p.R513Q (rs145474422) in the gene solute carrier family 22 member 8 (SLC22A8). We performed a functional study of these rare non-synonymous variants using the HEK293T cell line. We found that only p.R149C significantly reduced uric acid transport in vitro. Our results could deepen the understanding of uric acid handling in the kidneys and the molecular mechanism of uric acid transport by the OAT family of organic ion transporters.
650    _2
$a biologický transport $7 D001692
650    12
$a dna (nemoc) $x genetika $x metabolismus $7 D006073
650    _2
$a HEK293 buňky $7 D057809
650    _2
$a lidé $7 D006801
650    12
$a hyperurikemie $x genetika $7 D033461
650    12
$a protein 1 přenášející organické anionty $x genetika $7 D027362
650    12
$a přenašeče organických aniontů nezávislé na sodíku $x genetika $7 D029362
650    _2
$a kyselina močová $x metabolismus $7 D014527
655    _2
$a časopisecké články $7 D016428
700    1_
$a Mančíková, Andrea $u Department of Staphylococcal and Food-Borne Bacterial Infections, The National Institute of Public Health, Šrobárova 49/48, 100 00 Prague, Czech Republic
700    1_
$a Pavelcová, Kateřina $u Institute of Rheumatology, Na Slupi 450, 128 00 Prague, Czech Republic $1 https://orcid.org/0000000253797282
700    1_
$a Hasíková, Lenka $u Institute of Rheumatology, Na Slupi 450, 128 00 Prague, Czech Republic $1 https://orcid.org/0000000247942252
700    1_
$a Bohatá, Jana $u Institute of Rheumatology, Na Slupi 450, 128 00 Prague, Czech Republic $1 https://orcid.org/0000000274461542
700    1_
$a Stibůrková, Blanka $u Institute of Rheumatology, Na Slupi 450, 128 00 Prague, Czech Republic $u Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Ke Karlovu 455, 121 00 Prague, Czech Republic $1 https://orcid.org/0000000324651476 $7 xx0056517
773    0_
$w MED00194911 $t Cells $x 2073-4409 $g Roč. 11, č. 7 (2022)
856    41
$u https://pubmed.ncbi.nlm.nih.gov/35406626 $y Pubmed
910    __
$a ABA008 $b sig $c sign $y p $z 0
990    __
$a 20220720 $b ABA008
991    __
$a 20220804135356 $b ABA008
999    __
$a ok $b bmc $g 1822654 $s 1170382
BAS    __
$a 3
BAS    __
$a PreBMC
BMC    __
$a 2022 $b 11 $c 7 $e 20220322 $i 2073-4409 $m Cells $n Cells $x MED00194911
LZP    __
$a Pubmed-20220720

Najít záznam

Citační ukazatele

Možnosti archivace