GJA1

Colin,

It looks like we have another possible culprit in the mysterious realm of SIDS...GJA1. What is GJA1 you ask? Well, according to the National Center for Biotechnological Information...

This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. The encoded protein is the major protein of gap junctions in the heart that are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. A related intronless pseudogene has been mapped to chromosome 5. Mutations in this gene have been associated with oculodentodigital dysplasia and heart malformations.

Daddy knows, that is a mouthful, but it simply has to do with keeping your little heart working as it should. This study takes Daddy's overly simplistic wording and explains how GJA1 could possibly be linked to SIDS. The fact that they only found mutations in 2 of 292 cases is not overly encouraging, but it is a start, and you do have to start somewhere.

Two rare, novel missense mutations, E42K and S272P, were detected in 2 of 292 SIDS cases, a 2-month-old white boy and a 3-month-old white girl, respectively.

The irony is that you could very easily be that 2-month-old boy in the study. It is not that Daddy really wants any part of you to be used as a lab rat, but it is also oddly nice to think that your tissue may just be the tissue that helps unlock the mysteries of the very thing that killed you. So, Daddy is just going to pretend that his little boy is joining the fight in his own special way and kicking SIDS where the sun does not shine. It may only be a tiny comfort to imagine such a thing, but a tiny comfort beats none at all.

I love you very much!
Daddy