Diving deep into DNA to help a child with hereditary rickets
Asra Almubarak investigates gene mutations implicated in a case of rickets to pinpoint the cause
A researcher investigates gene mutations implicated in a case of rickets to pinpoint the cause
Childhood diseases such as rickets often impact not just the child, but also the family and community. Rickets, the softening and weakening of bones in children, is caused by either dietary deficiency or genetic abnormalities and affects around one in 200,000 children.
Hereditary hypophosphatemic rickets (HHR) can result from mutations in several genes and is a disorder related to low levels of phosphate – a mineral that is crucial for bone development and strength – in the blood. Phosphate levels are largely controlled by the kidneys, which normally excrete excess phosphate in urine, and also reabsorb it into the bloodstream when more is needed.
Hereditary hypophosphatemic rickets (HHR) can result from mutations in several genes and is a disorder related to low levels of phosphate – a mineral that is crucial for bone development and strength – in the blood. Phosphate levels are largely controlled by the kidneys, which normally excrete excess phosphate in urine, and also reabsorb it into the bloodstream when more is needed.
X-linked hypophosphatemic rickets, the most common form of HHR, is caused by mutations in the PHEX gene, which provides instructions for making an enzyme that is active primarily in bones and teeth. PHEX can regulate fibroblast growth factor 23 (FGF23), a hormone produced in bone cells that manages the body’s phosphate levels. Gene mutations increase the production or reduce the breakdown of FGF23 which affects phosphate levels in the bone.
