Science

...on the jury, and were I to have the evidence described in the Nature article, I would have held out adamantly for acquittal, using, at least the standard of "reasonable doubt." In this case, I think, it would be unreasonable, extremely so, not to doubt guilt. In fact, I strongly suspect that this woman is innocent.

Of course, the prosecution to advance their case, would almost certainly use a challenge to keep me off the jury, if this evidence, not available at the time of the trial, were offered in discovery, since I actually know something about proteomics.

This is a previously unknown mutation, G114R, and specifically it involves a change for a neutral, very small amino acid, one which in effect has no side chain, glycine, for highly charged amino acid, with a very large side chain, arginine. As is mentioned in the article it is known that a similar substitution, at residue 114, G114W (glycine substituted by tryptophan) led to fatal events.

The tertiary structure of proteins, the feature that controls their operability, is very much controlled by charges on side chains. In fact, turning proteins "on and off" is generally controlled by varying side chain charges. In particular, the class of compounds known as "kinases" control physiology - sometimes causing it to go haywire as in cancer - by phosphorylating or de-phosphorylating amino acids with hydroxy side chains (serine and threonine and even sometimes tyrosine).

The calmodulin protein is highly conserved across vertebrae species, meaning that it doesn't take much to make it dysfunctional. We do not know whether the children all have this mutation, but it is hardly statistically impossible for them to do so, about 1 in 16. The reason that this gene is previously unknown may well be that it is almost always fatal in children, that is, natural selection prevents people having the mutation from living long enough to have children.

This begs the question of why Ms. Folbigg, who has the mutation, has survived long enough to have children. A possible answer to my thinking, is the realization that proteins do not function in an isolated environment. They interact with one another strongly, often in a long chain of events. Although arginine is a coded amino acid, it is often post translationally converted to the lysine analogue ornithine via deguanidation while incorporated in the protein.

To satisfy myself that this is entirely possible I entered the following search terms into Google Scholar:

ornithine, arginine, post translational, calmodulin, heart (2,480 hits)

...and, in another search...

ornithine aminotransferase "heart disease" (2,280 hits).

It's entirely possible in my mind that Ms. Folbigg may have had another protein that her children lacked, which served to act on the specific arginine in the G114R mutation (or perhaps another region of the calmodulin protein) making it more functional.

If it is found that the tissues of the children all show the G114R mutation, this woman should be released in my view, and the courts should apologize to her. I note that highly qualified scientists, vastly more knowledgeable than I am, have taken up her cause.

By the way, her former husband is a piece of shit for not offering up his genome for review. Perhaps he's "concerned" he'll look bad for vilifying his wife if she is innocent.

I suspect that Ms Folbigg's biggest crime was having more children after losing the first two. I don't know anything at all about her relationship to her husband, but it strikes me that something was rotten in that marriage.

A piece of circumstantial evidence used against her in her original trial was that she kept a diary noting how difficult it was to deal with the children's crying. I can sympathize. My oldest son had colic, and really didn't stop crying for long periods, until he was about 9 months old. If I or my wife had kept a diary, as Ms. Folbigg did, I'm sure it would have included complaints, perhaps some bitter, which is not to say we didn't love our son; he's 28 now and is a treasured member of our family of whom we are very proud. I note that he had a somatic mutation that led to certain facial difference that was only partially treatable; it never went away fully. It's still there. Fortunately the mutation was not fatal (although in some embryos it is, depending on the timing of when the mutation occurs.)

We were often approached by rude people when he was a baby who wanted to know "what we did" to "cause" that.

Of course I wanted to scream at these people and tell them to go fuck themselves, but I restrained myself, because I did not want my son to live with his gene derived "difference" as a source of stress and anger. I simply said, "we don't know the cause," which was true at the time, although I recently discovered a paper that explained the cause fully.

A pernicious interaction between genes and justice is not a new case. In fact, right up to the current day, injustice has been connected with a single nucleotide polymorphism that a subclass of human beings lack, having failed to become mutants. The mutants thus decided to treat the non-mutants with extreme injustice, a criminal enterprise that persists to this day.

This mutation is described here: Anthony L. Cook, Wei Chen, Amy E. Thurber, Darren J. Smit, Aaron G. Smith, Timothy G. Bladen, Darren L. Brown, David L. Duffy, Lorenza Pastorino, Giovanna Bianchi-Scarra, J. Helen Leonard, Jennifer L. Stow, Richard A. Sturm,
Analysis of Cultured Human Melanocytes Based on Polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P Loci, Journal of Investigative Dermatology, Volume 129, Issue 2, 2009, Pages 392-405.