Quick Q&A with APC study lead author

26 Aug

I recently blogged about a study that linked APC dysfunction with autism and learning disability. Two questions interested me so I wrote to lead author Michele Jacob to ask them.

Hi Dr Jacob,

My name is Kevin Leitch, I own and edit a popular blog on autism and am also father to an autistic daughter.

I found your recent study very interesting and had questions that I’d like to ask you and hopefully you’d give me permission to discuss your answer on the blog?

My questions are –

1) is there any set of circumstance in which APC dysfunction can occur ‘in the wild’ e.g. could a child be given something that then ‘turned’ them into an autistic person by negatively affecting APC function?

2) If there *is* , is there a way that this dysfunction might be reversed or at least modified somewhat?

My own take on this is that the answer to both questions would be ‘no’ but I have no understanding of APC function and a laymans understanding of genes in general.

Many thanks in advance for both your fascinating study and any time you can offer me in answering my questions.

She responded:

Hi Kevin,

Thanks for discussing our work in your blog. I am delighted our work interests you.

I think the short answer to both questions is no. The only way to cause APC dysfunction is via gene mutations. It’s function can be modified, enhanced or reduced, by signaling events in cells, but these changes are not large enough to have effects on behavior.

Loss of function mutations in the APC gene are inherited or occur sporadically. The symptoms associated with the sporadic mutations will depend on the cell type. APC is present in all cells of the body and it has several functions that are critical at different stages of development.

My lab is continuing to define the role of APC in the nervous system. Our goal is to define changes caused by APC dysfunction that lead to learning deficits and autistic-like behaviors.

Hope this information clears up your questions.

My best regards to you and your daughter.

So why did I ask these questions? Well, its been my experience that the antivax crowd leap on any science that seems to have an outcome that is linked to autism, to either trash it or link vaccines to it. I’m hoping Dr Jacob’s answers lead away from the possibility of linking autism to vaccines via APC dysfunction.

3 Responses to “Quick Q&A with APC study lead author”

  1. passionlessDrone August 26, 2010 at 21:40 #

    Hi Kev –

    I think we want to apply a healthy dose of skepticism before we start thinking that complete loss of function to the APC gene is contributing to a meaningful number of people with autism. I like very much the synapse angle, but there are a bazillion ways to get that process off kilter that don’t involve wholesale loss of function deletions that are very highly associated with things we ought to be noticing in our autism population; for example, a sky high rate of colon cancer.

    http://atlasgeneticsoncology.org/Genes/APC118.html

    Germline mutations of APC cause a spectrum of diseases under the broad category of familial adenomatous polyposis (FAP).

    Without treatment, the life expectancy is in the early 40s due to colon cancer. Treatment consists of regular screening, with polypectomy of large lesions. Due to the large number of polyps, eventual complete colectomy with or without proctosigmoidectomy is needed.

    Knockout mice are great tools for studying big changes, but I get a sinking feeling anytime I get told that gradient between the binary of on and off isn’t important. I just am not sure we are clever enough to understand that yet.

    – pD

  2. Barbara August 26, 2010 at 22:48 #

    “It’s function”

    Did she really write that? Really? Or is this lost in transcription?

  3. Kev August 27, 2010 at 08:09 #

    She did 🙂 but I think she was in something of a hurry 😉

    pD – agreed, but its been my experience that a certain type of anti-vaxxer will seize on anything. The AoA brigade are condoning stem cell treatment for autism for example.

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