Normal RNAi response in human fragile x fibroblasts

TY - JOUR

T1 - Normal RNAi response in human fragile x fibroblasts

AU - Madsen, Charlotte

AU - Grønskov, Karen

AU - Brøndum-Nielsen, Karen

AU - Jensen, Thomas G

PY - 2009

Y1 - 2009

N2 - BACKGROUND: Fragile x syndrome is caused by loss of expression of the FMRP protein involved in the control of a large number of mRNA targets. The Drosophila ortholog dFXR interacts with a protein complex that includes Argonaute2, an essential component of the RNA-induced silencing complex (RISC). Furthermore dFXR associates with Dicer, another essential processing enzyme of the RNAi pathway. Both microRNA and microRNA precursors can co-immunoprecipitate with dFXR. Consequently it has been suggested that the Fragile x syndrome may be due to a defect in an RNAi-related apparatus. FINDINGS: We have investigated the RNAi response in Fragile x patient cells lacking FMRP compared with normal controls. RNAi responses were successfully detected, but no statistically significant difference between the response in normal cells compared to patients cells was found - neither one nor two days after transfection. CONCLUSION: Our data show that in human fibroblasts from Fragile x patients lacking FMRP the RNAi response is not significantly impaired.

AB - BACKGROUND: Fragile x syndrome is caused by loss of expression of the FMRP protein involved in the control of a large number of mRNA targets. The Drosophila ortholog dFXR interacts with a protein complex that includes Argonaute2, an essential component of the RNA-induced silencing complex (RISC). Furthermore dFXR associates with Dicer, another essential processing enzyme of the RNAi pathway. Both microRNA and microRNA precursors can co-immunoprecipitate with dFXR. Consequently it has been suggested that the Fragile x syndrome may be due to a defect in an RNAi-related apparatus. FINDINGS: We have investigated the RNAi response in Fragile x patient cells lacking FMRP compared with normal controls. RNAi responses were successfully detected, but no statistically significant difference between the response in normal cells compared to patients cells was found - neither one nor two days after transfection. CONCLUSION: Our data show that in human fibroblasts from Fragile x patients lacking FMRP the RNAi response is not significantly impaired.

U2 - 10.1186/1756-0500-2-177

DO - 10.1186/1756-0500-2-177

M3 - Journal article

C2 - 19740428

SN - 1756-0500

VL - 2

SP - 177

JO - BMC Research Notes

JF - BMC Research Notes

ER -