Researchers have assumed that mothers are more likely to pass on autism -
promoting gene variants.
Not exact matches
But a faulty
variant of this
gene arose six generations ago in an Amish group, causing the people who carry one copy of the
variant to produce half as much of the age -
promoting protein.
In the journal Cell on July 27, researchers show how this DNA
variant enhances the activity of a
gene called endothelin - 1 (EDN1), which is known to
promote vasoconstriction and hardening of the arteries.
More recently, in a joint initiative with the BBMRI - LPC project (Biobanking and Biomolecular Resources Research Infrastructure — Large Prospective Cohorts) and the Wellcome Trust Sanger Institute, the CNAG - CRG launched a call to
promote the use of sequencing technologies for the identification of novel causative
variants and
genes and to molecularly diagnose rare disease patients.
In their report receiving advance online publication in Neuron, the researchers describe a protective
variant of the CD33
gene that
promotes clearance of A-beta from the brain.
Although myriad signs indicate that our
gene pool rapidly adapts to the novel nutritional environment (39), many of us still carry
gene variants that
promote insulin resistance.
The KB
variant of the CBD103
gene promotes eumelanin (black pigment) synthesis by blocking agouti
gene expression at the A Locus which would otherwise inhibit MC1R production of eumelanin.