Talk:Gaucher Disease 2012

Question

Hi there, considering the 'ongoing' tags still present in the text, is this finished and can we look at it or not yet?

- Jonas

Hi, sorry about that. I am still working on it and try to finish them as soon as possible, probably in two hours.

- Guokun

kk, take your time

- Jonas

Hi, it is finished and there will be no more big modification (maybe some minor ones), you can look at it now.

- Guokun

Review

The Gaucher Disease wiki entry is well written, logically structured and offers a comprehensible overview of GD. It touches on all topics of interest and excels with many cross-references which provide deeper insight into the matter.

A few remarks and questions:

Style and formatting:

• Name all figures, refer to them in the text, and attribute all their sources, even if the source has already been cited in the text for something else

- We will try...

• Sometimes switch to past tense for no apparent reason

- We will try to check them again.

• Very few spelling mistakes (Bookshell, presnets...)

- They have been corrected.

• White spaces should be checked (sometimes too few or too many)

- We will try to check them again.

Contents:

• If possible add more information about the biochemical process, what happens in the active site, which residues are important

- Active sites performing a nucleophilic attack: 274 (Glu, E), 379 (Glu, E) [1]

• Add a reference sequence

- Done.

• More (literature) references (e.g. for symptoms, diagnosis, treatment)

- Okay now?

• Are there other founder populations with a high carrier frequency or is it only the A.jews?

- Yes, type 3 GD is found common in Norrbotten,northern Sweden, has been added to the text.

Out of interest:

• Is there any new research on what causes the three different GD types? How do mutations affect the enzyme, so that there seems to be no issue with brain cells in GD Type 1, but there is in Type 2 and 3? That would be very interesting.

- Yes, for Type 1 GD, four mutations: N370S, 84GG, IVS2+1G>A, and L444P account for 90% of the mutant alleles in Ashkenazi Jewish individuals and for 50%-60% of mutant alleles in non-Jewish individuals[2]. And L444P is reported as the main mutation associated to Type 2 and 3 GD[3][4]. Such information has been added to the text.

• Does the Enzyme replacement therapy for GD Type 2 and 3, like Tay-Sachs disease, not work due to the blood-brain barrier?

- Yes, the replacement enzyme is not able to cross the blood-brain barrier, has been added to the text.

Alice, Jonas