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Possible Medical Break thru - HCM

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  • Debbie Gramlich
    This was forwarded to me thru a friend who has Ragdolls, just had to post. I am sure you will find it uplifting. Debbie Forwarded from the fanciershealth list:
    Message 1 of 1 , Jun 2, 2005
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      This was forwarded to me thru a friend who has Ragdolls, just had to post. I
      am sure you will find it uplifting.
      Debbie


      Forwarded from the fanciershealth list:

      This morning, I received a telephone call from Dr. Mark Kittleson, DVM,
      Diplomate ACVIM (Cardiology) at UC Davis with some fantastic wonderful
      news.

      Dr. Kittleson and Dr. Kate Meurs, DVM, Diplomate ACVIM (Cardiology),
      Ohio State University, and their respective staffs, have identified a
      mutation in DNA that appears to cause HCM in Maine Coon cats in the
      Davis colony. The paper has been submitted for publication, and the
      abstract has been presented this morning at the ACVIM forum.

      This is a point mutation in Myosin Binding Protein C, and is in an exon
      that has not been documented to cause HCM in humans, although there are
      certainly human HCM mutations in this gene (just not in the area of the
      gene where the Maine Coon mutation was seen.)

      The mutation changes the amino acid alanine into proline. When this
      change is run through a computer simulation, the Myosin Binding Protein
      C molecule is definitely malformed--it is folded on itself in an
      abnormal manner, and it is postulated that this protein would not be
      able to mechanically fulfill its function in the sarcomere. This
      mutation also explains the reduction in myomesin documented by these
      same researchers several years ago.

      Dr. Meurs has done DNA sequencing work on this gene, and has developed
      an RFLP DNA test, and the results from these two methods are in
      agreement.

      Work will continue to determine if this is the only mutation seen in
      Maine Coons.

      The issues surrounding the standardization of this test, the method for
      disseminating sample kits and collecting samples, cost, etc, are a bit
      unclear at present. This information will be made public in the coming
      days and weeks. Suffice to say that a test is coming, really coming,
      and soon.

      This has been a herculean 13 year effort, and is a remarkable
      achievement. I am moved to tears this morning as the impact of this
      news hits home, there will be real tangible benefit for our cats. It is
      simply remarkable!

      Today is a red letter day in the history of the Maine Coon breed.

      --Paul

      Apologies in advance if I've mangled the info above--I've tried to
      recount the details accurately. Mistakes, if there are any, are mine
      alone.

      ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
      Paul Huntley Lunarcoons Maine Coons
      San Jose, CA http://www.lunarcoons.com
      ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
      --- End forwarded message ---
      --- End forwarded message ---
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