[Jacob-list] GM2 Gangliosidosis (Tay-Sachs) mutation

[Frederick Horak]

Dear Listers - It has been a few years now since the G444R mutation has been first reported in Jacob sheep in the United States and this note is just a short update to inform you that the mutation which was found in a flock in England (I think I sent a note last Summer) has now been confirmed in England, Scotland, Wales and Northern Ireland.  Inasmuch as Jacobs have been exported to Europe, it is possible that the mutation may be found in these exports as well.  The incidence of the mutation in the UK is less than in the US since the US Jacob population suffers from the founder effect reflected in the original population numbers.  The objective is to prevent the spread of the mutatiion.  Those breeders exporting Jacobs to Canada, for example, will want to test their exports ... perhaps importers may want to have some assurance, although with a known genetic mutation, 'caveat emptor' hardly seems appropriate.

For those who have been Interested in this mutation and the effect on the Jacob breed you may be interested in knowing that Dr. Tim Cox of Cambridge (a member of the Tay-Sachs Gene Therapy Consortium) is playing a part in examining the UK Jacob gene pool and controlling the spread of the mutation; a collaborative effort with the Animal Health and Veterinary Lab of the UK and the UK Jacob Sheep Society.  They are trying to develop a testing scheme for rams, at a minimum.  Even though it is no longer a rare breed in the UK they are concerned about its distribution and incidence.

For those that have been interested in the translational issues; the Jacob has turned out a very useful large animal model, the AAV gene therapy protocols have been successful and it is possible that FDA Phase one trials may begin as early as March 2013.

A Happy New Year and best of luck.  Fred Horak
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