[Jacob-list] Congenital defects - Lysosomal disease

Susan J Martin stcroft at ptd.net
Thu Feb 21 14:07:36 EST 2008


Fred, it was so good to hear from you again. I am glad to know the research is ongoing.....hadn't heard anything in a while. Hope you are doing well.
Sue Martin
Stonecroft


----- Original Message -----
From: Jacobflock at aol.com
To: jacob-list at jacobsheep.com
Sent: Thursday, February 21, 2008 1:19 PM
Subject: [Jacob-list] Congenital defects - Lysosomal disease


First, I should indeminy myself ... identify myself. I am an aged man with Jacobs.

I received a telephone call from Dr. John Edwards at Texxas A&M's vet school regarding any further status reports on congenital dfects in Jacobs, spefcifically any reports of lysomal disease, GM2 gangliosidosis.

I wrote some iinformation on this lethal disaese in 2002, along with the annual listing of congenital defects in winter 2002, which was made available to the JSC and JSBA. In fact, one of my earliest obervations of this problem was the JSBA meeting iin New York a years ago and there were two reported cases, one confirmed/one unconfirmed in 2003, the last year I managed to remain "on-line".

Columbia University has been working with Texas A&M to try to capture furtherl gene information on this disease (which is also a human disease) anmd both institutions are earnestly lookiing for infected lambs. With new lambs hitting the ground it would be very helpful if Jacob breeders would identify possible infected lambs, monitor thier progress , and when it dies, contact Dr Edwards at 979-845-4608 and see if it is possible to have a necropsy and spinal tissue sample taken.

Most of the affected aheep have Turner 183K as a confirmed pedigree source, one had a Jacobs Ladder as a potential source (Dr. Womack, Txas A&M). Thus, the ability to have a pedigree for the affected lamb would be extremely helpful so the genetic material can be compared.

If you need further informatrion, you might contact Joan Schnieber to see if she has a copy of the article from 2002 which describes the symptoms, etc. It is lethal and many cases of OCD may in fact be GM1 or GM2. If you observe Jacobs with splayed legs, weak pasterns, off gait, ataxia, etc., watch and observe until it becomes recumbant and, if it dies, please get involved ... for the sake of humans and the breed.

Thank you for you attention.

Fred Horak
St. Jude's Farm
1165 E. Lucas Rd.
Lucas, TX 75002




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