This construct was used to introduce the corresponding
human FOP mutation R206H and the constitutive active variant of the receptor Q207D by Site - Directed Mutagenesis (QuikChange, Stratagene) using the following primer pairs (with lower - case letters indicating the nucleotides changed relative to wild - type Acvr1 sequence): R206H - chAcvr1 - fwd, 5 ′ - GCAAAGAACAGTGGCTCaCCAGATCACGCTTGTGG - 3 ′ and R206H - chAcvr1 - rev, 5 ′ - CCACAAGCGTGATCTGGtGAGCCACTGTTCTTTGC - 3 ′; chAcvr1 - ca - Q207D - fwd, 5 ′ - GCAAAGAACAGTGGCTCGCgAcATCACGCTTGTGGAGTG - 3 ′ and chAcvr1 - ca - Q207D - rev, 5 ′ - CACTCCACAAGCGTGATgTcGCGAGCCACTGTTCTTTGC - 3 ′).
Most importantly, when the team disabled the HIF - 1α cellular alarm, BMP signaling in
human FOP bone progenitor cells was restored to levels comparable to cells in normal oxygen.
Not exact matches
«If the drug's benefits translate to
humans, it could mean that newborn babies diagnosed with
FOP could benefit from early treatment,» Pacifici said.
The current JBMR study extended that research by using palovarotene in a mouse model carrying the same
human gene mutation that causes
FOP.
If these results translate to
humans, we may be able to treat children with
FOP early in life, before the disease progresses.»
Unlike the skin cells from which they originated, the
human iPS cells created from
FOP patients show increased cartilage formation and increased bone mineralization, two critical steps that are necessary to form mature bone.