「歌舞伎症候群の責任遺伝子発見」の知らせが舞い込みました

歌舞伎ジャーナル第98号にてお知らせしました件について、本日北米のネットワークからとどきました。
詳細はまだ翻訳していませんので良くわかりません。また、どの遺伝子が責任遺伝子なのかも未翻訳なのでわかりません。とりあえず、原文を掲載します。
The study at the University of Washington has found a gene responsible for
Kabuki! The study has been reviewed by peers and has now been submitted for
publication. Until it is has been accepted for publication we will not be
giving out specifics, but KSN has finally been given the go-ahead to let our
membership know.
Sue, Dana and I have held out in the printing of the May newsletter till we
could include this important news….and we will need to wait a few more weeks
till we can add more specifics, but be assured, we will let you know as soon as
possible!
I’ve had many, many questions for poor Maggie McMillin (the research
coordinator). She didn’t know she would have to become a genetic professor! I
have already drawn up a draft to further clarify the discovery and Maggie has
made her editions. (Look for it in the Kabuki Journal.)
One of my questions, of course, was how long it could possibly take till a
clinical test is developed. Maggie said that although Kabuki is considered a
rare syndrome, it certainly isn’t nearly as rare as many others. Virtually
every geneticist would now know about it (not necessarily diagnosed a case, but
certainly be aware of it). So a test would likely be developed fairly
soon….maybe within a year.
To the families who have written wanting to know about whether they still need
more participants….and whom I’ve delayed answering….
YES!! To explain why is a bit complicated and I’m not sure I have a total grasp
of all the reasons yet, but I’ll give it a try…
It is still not totally understood why there is such an wide variance of
expression of Kabuki. Some of it scientists may never understand. Some of it
is because of the nature of proteins. Much of this will be better understood
when I’ve finished my article that will appear in the Kab Journal. Basically,
the same ‘spelling error’ in one individual may appear in different parts of the
sentence as that of another, which would then produce different shapes of
proteins for each individual. The SHAPE of a protein will determine to some
degree, how well it will function. So not all children with the same defective
gene will necessarily be affected in the same way. They are also not sure
whether there are other sub-types of Kabuki (as there are in many other
syndromes). There may, for some children, be defects in other genes also.
Whether we totally understand the genetics of it all….Maggie would like many
more participants. If you have not done so….NOW is the time! She should be
inundated with families willing to participate. I will resend earlier
information with a following post.
For families from non-English speaking countries….here’s the deal. They have
recently completely overhauled their consent forms and they have yet to be fully
translated. Also, Maggie usually speaks with you by phone to make sure the
consent forms are understood. So if you speak fairly descent English – she
would like your involvement!
So, yes, the gene has been discovered. Does that mean we can answer every
question….no.
But it’s a huge start. A place to further explore!
 
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カテゴリー: 未分類 パーマリンク

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