What does the LRP5 gene do?
The LRP5 gene provides instructions for making a protein that is embedded in the outer membrane of many types of cells. It is known as a co-receptor because it works with another receptor protein, frizzled-4 (produced from the FZD4 gene), to transmit chemical signals from outside the cell to the cell’s nucleus.
What causes LRP5?
Mutations in LRP5 can lead to considerable changes in bone mass. A loss-of-function mutation causes osteoporosis-pseudoglioma (decrease in bone mass), while a gain-of-function mutation causes drastic increases in bone mass….
| LRP5 | ||
|---|---|---|
| showRNA expression pattern | ||
| showGene ontology | ||
| Orthologs | ||
| Species | Human | Mouse |
What type of mutation causes LRP5?
Background. Osteoporosis is a major public health problem of largely unknown cause. Loss-of-function mutations in the gene for low-density lipoprotein receptor–related protein 5 (LRP5), which acts in the Wnt signaling pathway, have been shown to cause osteoporosis–pseudoglioma.
Is LRP5 hereditary?
Selective activating mutations of the LRP5 gene, which encodes for low-density lipoprotein receptor-related protein 5, is inherited as an autosomal dominant trait with the major finding of a systemic increase in skeletal mass composed of normal bone.
Is osteogenesis imperfecta autosomal dominant?
When caused by mutations in the COL1A1 or COL1A2 gene, osteogenesis imperfecta has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the condition.
Is it possible to have unbreakable bones?
Unbreakable bones – the LRP5 gene Through blood samples provided by 20 family members and DNA mapping they discovered a gene mutation in LRP5 that was causing the ‘unbreakable’ bones.
How dense can human bones get?
The T-score
| Level | Definition |
|---|---|
| Normal | Bone density is within 1 SD (+1 or −1) of the young adult mean. |
| Low bone mass | Bone density is between 1 and 2.5 SD below the young adult mean (−1 to −2.5 SD). |
| Osteoporosis | Bone density is 2.5 SD or more below the young adult mean (−2.5 SD or lower). |
What is LRP5V171?
Conclusions: The LRP5V171 mutation causes high bone density, with a thickened mandible and torus palatinus, by impairing the action of a normal antagonist of the Wnt pathway and thus increasing Wnt signaling.
Can bones be too hard?
Osteopetrosis, literally “stone bone”, also known as marble bone disease or Albers-Schönberg disease, is an extremely rare inherited disorder whereby the bones harden, becoming denser, in contrast to more prevalent conditions like osteoporosis, in which the bones become less dense and more brittle, or osteomalacia, in …
Is there a sleep gene?
A new study reports the discovery of the first gene involved in regulating the length of human sleep. A mutation in the gene enables some people to function well on only six hours of sleep per night. The results were published in the Aug. 14 issue of the journal Science.