New Possible SIDS Genes Identified

ScienceDaily is reporting that researchers at the Mayo Clinic have identified two more cardiac genes that could contribute to sudden infant death syndrome (SIDS). From the article: "In the two recent separate studies, researchers examined caveolin-3 (CAV3) and the cardiac ryanodine receptor (RyR2) and found molecular and functional evidence in both to implicate them as SIDS-susceptibility genes. Researchers examined the tissue of 135 unrelated cases of SIDS -- in infants with an average age of 3 months old -- that had been referred to Mayo Clinic's Sudden Death Genomics Laboratory for molecular autopsy. In each study, two of the 135 cases possessed mutations in either CAV3 or RyR2."

Comments

Seems an odd gene to still exist

[AuMatar]

Unless it has major advantages in youth/adult life. It increases the chance of death long before sexual maturity, evolution usually weeds those genes out rather quickly. Does the gene have any other known effect?

Re:Seems an odd gene to still exist

[Autumnmist]

RTFA.

The CAV3 and RYR2 genes are not the problems themselves. The problems come from specific MUTATIONS in those genes. The article specifically says: "In each study, two of the 135 cases possessed mutations in either CAV3 or RyR2."

And before anyone starts going "2/135 isn't much," the scientists didn't say these mutations alone are responsible for the disease. They say In the two recent separate studies, researchers examined caveolin-3 (CAV3) and the cardiac ryanodine receptor (RyR2) and found molecular and functional evidence in both to implicate them as SIDS-susceptibility genes. . Susceptibility is the key word here. Having the mutations doesn't guarantee SIDS; it only increases the likelihood of it.

Whenever you read a simplified article about genetic susceptibility, 9/10 times the "gene" that is linked to the disease doesn't actually mean the gene causes the disease. It means that mutations in the gene cause the disease.

The mutations impair the normal function of the gene. In the case of these two genes, CAV3 is the gene coding for a protein found in muscle and losing it results in muscle degeneration, while RYR2 is the gene coding for a calcium-release receptor in cardiac muscle.

Color me skeptical, but...

[WoodstockJeff]

Something that occurs in less than 2% of studied cases is a "potential contributing cause"?

Lots of work to do...

[MarkByers]

In each study, two of the 135 cases possessed mutations in either CAV3 or RyR2.

So one case of each mutation was found in each trial, and 266 of the 270 cases remain unsolved. It sounds like it is barely above a statistical anomaly.

If you take a random sample of 270 people that like fishing, there will be some mutation that is common between two or more of them, but that's hardly enough to claim that this mutation makes you enjoy fishing.

It looks like there is still a lot more research to do before we understand what the effects of different genes / mutations are.