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Kennedy's Disease Chat Transcript
01-12-02
Topics: Special Guest - Dr. Diane Merry

Chat Participants:

  • susannew
  • dmerry
  • patrick
  • vern
  • jean
  • lenj
  • don48312
  • michael17860
  • mobiusloop2
  • london
  • chuck
  • john-c
  • speedy
  • butch
  • billeric


susannew -- {welcome susannew}

patrick -- {welcome patrick}

don48312 -- {welcome don48312}

patrick -- {welcome patrick}

susannew -- Good morning Patrick and Don!

don48312 -- GM

don48312 -- 70'S HERE IN FL

patrick -- Hi Don and Susanne!

dmerry -- {welcome dmerry}

susannew -- 80's here in California! YA!

susannew -- Good morning Dr. Merry. Thank you so much for joining us.

don48312 -- REGISTERED FOR FSMA CONVENTION IN SCHAUMBURG THIS PAST WEEK. 3 NIGHTS THIS TIME

susannew -- That's great Don.

don48312 -- K SUE. WOULD MUCH RATHER MEET IN LAS VEGAS, LOL

susannew -- Don: Can do that on the side. I know a couple going there late January! Want to go?

don48312 -- JAN 2 SOON 4 US. GOING TO GULFPORT, MS IN SPRING. THE

CASINOS MAKING ME POOR. DO U MEAN THE ATLANTA GANG?

susannew -- Don: Nice people living with KD from New York going to Vegas end of January.

don48312 -- WE CAN TALK ABOUT THIS LATER. LETS LISTEN TO DR M, K?

dmerry -- Good morning Susanne. Good morning all. Thank you for inviting me to join you.

don48312 -- GM DR M

dmerry -- Thank you. I will sit tight and follow along.

susannew -- Dmerry: We’ll have a lot of questions I'm sure!

jean -- {welcome jean}

chuck -- {welcome chuck}

susannew -- Good morning Chuck and Jean!

jean -- God evening from Belgium to everyone

susannew -- This morning, Dr. Diane Merry has joined us. Dr. Merry is a leading researcher in the field of Kennedy's Disease. She works at Thomas Jefferson University in Philadelphia, Pennsylvania.

susannew -- Dr. Merry's lab and team focuses on Kennedy's Disease.

patrick -- {welcome patrick}

susannew -- Dr. Merry: Could you tell us a little bit about the animal and insect models you have developed for Kennedy's Disease and how they will be used for various research studies...

dmerry -- Good morning everyone. I'm happy to join you this morning.

dmerry -- We have recently made a very useful mouse model for Kennedy's and have collaborated with Dr. Bonini to make a fly model. We are using the mouse model to figure out what is going wrong with the motor neurons, and also to develop therapies.

mobiusloop2 -- {welcome mobiusloop2}

patrick -- {welcome patrick}

susannew -- I have not heard of Dr. Bonini... where is he from?

dmerry -- Dr. Nancy Bonini is at the Univ. of Pennsylvania. She has made some very useful fly models for neurodegenerative diseases.

susannew -- How does a fly model help KD versus a mouse model?

dmerry -- The fly is useful because it has a much shorter lifespan, and can be used to rapidly screen for genetic changes that can cure the fly (called "suppressers").

dmerry -- The fly can also be used to quickly answer questions about what happens when you put in a new protective gene - sort of like gene therapy. It is really useful for testing ideas about what is going wrong in the disease because you can do the experiments so quickly.

speedy -- {welcome speedy}

patrick -- {welcome patrick}

susannew -- Everyone, please feel free to ask Dr. Merry questions...

don48312 -- DOC, OVER THE PAST YEAR WHAT PROGRESS HAS RESEARCH MADE?

dmerry -- There are several new areas of progress. One is from my own lab. This is the development of a better mouse model.

don48312 -- DO U MEAN A MOUSE WITH SMA TO DO RESEARCH ON?

susannew -- Don: A mouse model with Spinal Bulbar Muscular Atrophy (Kennedy's Disease.)

don48312 -- GOTCHA SUE

patrick -- Dr. Merry, most of us know about the AR gene. Do you feel that is the only genetic abnormality common to KD? If not, explain.

dmerry -- Patrick, yes, the AR gene defect is THE defect causing KD. There may be things that modify when one gets the disease, but the AR defect is the central defect.

lenj -- {welcome lenj}

mobiusloop2 -- Does Dr. Merry know of any studies using growth hormones for treatment of KD?

dmerry -- mobiusloop2, I don't know about the use of growth hormones in the treatment of KD, although a clinician might know about this. We are testing some hormones in the mice but won't have the results for at least 6 months.

jean -- In he chat at 15 December DR La Spada say: Everyone knows the reason why you have KD is too many polyglutamine in a chain/row ... So now we think that the extra polyglutamine cause the mutant KD protein to mess up gene and we believe that certain genes are turned off when they should be turned on. QUESTION: Dr. Merry - How did scientists reach the conclusion that the mutant protein turns off the expression of OTHER genes? What is know about this for OTHER cells than the motor neurons?

dmerry -- Jean, there is evidence that the mutant AR with the long string of polyglutamines can alter the expression of other genes. This work has so far only been done in a cell model; that is, cells grown in a dish. We don't have any information yet from the mouse, but are very interested in starting this work. Whether these changes would affect other tissues other than the nervous system is not known, but we'll want to answer that question too.

speedy -- What about the use of Creatine?

dmerry -- Speedy, Creatine has shown an effect in the ALS mouse and in a Huntington's mouse, but we haven't tried it yet. We're planning to start those experiments this spring.

speedy -- Thanks DR Merry

john-c. -- {welcome john-c.}

susannew -- Dr. Merry: Has there been any further thought to setting up a side test for the mouse in regards to at least finding an indicator about exercise... I know at FSMA conference it was thrown out the possibility of running a test with a mouse with a wheel in the cage...

patrick -- Dr. Merry, what is your explanation of the role of the AR gene's expanded CAG repeat in apoptosis?

dmerry -- Patrick, there is evidence that cells grown in a dish that express the defective AR die by apoptosis. It is not known whether the motor neurons die by apoptosis, but this is a point of considerable

interest. One point to make is that the first mouse model that we made, with a truncated piece of the AR (but still a long polyglutamine tract) developed severe disease without any cell death. So it looks like the main problem is that the neurons don't function properly. Eventually they degenerate, but that's not what causes the symptoms.

jean -- Dr.Merry - Has the Friedreich's Ataxia and the KD similar causes?

dmerry -- Jean, Friedreich's ataxia and KD are both caused by expansions of DNA sequence. However, in KD, the DNA expansion is in a part of the gene that becomes protein. In Friedreich’s, the expansion causes the protein to not be made at the correct levels.

don48312 -- IS THE AR GENE THE ANDROGEN RECEPTOR GENE????????

patrick -- AR gene = androgen receptor gene

don48312 -- TU

mobiusloop2 -- Will the variation in the onset of KD (my symptoms did not start until age 65) complicate your research?

dmerry -- mobiusloop2, the fact the KD can start late, and that the mice only live 1.5-2 years, has complicated the development of a mouse model, but now that we have one, it doesn't matter any more!

mobiusloop2 -- Thanks, it's good to get info on current research

patrick -- Please correct me if I'm wrong, Dr. Merry. Don, AR(q11) or AR (q11-12) are also the abbreviations or notations for the particular gene (AR) and the location of the abnormally expanded stretch of trinucleotides.

dmerry -- Patrick, yes, AR is the Androgen Receptor. The q11 or q11-12 notation refers only to where the gene is located on the X chromosome (band q - for long arm - number 11-12.

john-c. -- Dr.M: #1: Do you work in conjunction with the folks at NIH, or is your work separate?? #2 How do you folks communicate so there is no duplications and lesser lost time??

dmerry -- John-c, I trained with Dr. Fischbeck, who is now at the NIH, when he was at Penn. I collaborate with him and other in his lab, and even other who have left his lab by now. We all have different expertise, and realize that we'll get an answer faster if we do things collaboratively.

john-c. -- Thanks: I'm a patient of Kurt's now.

dmerry -- john-c., yes, it would be nice to have Dr. Porter's number. Thanks.

john-c. -- Send me an Email after this is over: This email address is being protected from spambots. You need JavaScript enabled to view it.

jean -- Dr. Merry - Is there a scientist explication for the development of the disease. Example: My right hand is stronger affected than the left one.

dmerry -- Jean, I don't think we yet know why one side should be more affected than the other. For some time, it was thought that it developed symmetrically. We should eventually be able to get at that question with the mice.

patrick -- On the issue of uneven progression of KD: people are rarely completely symmetrical: an arm or leg (etc.) may be stronger (or bigger, etc.) than the one the other side of the body. In addition, trauma to

muscles and nerves can result in changes in capacity of a limb. Can these differences be "magnified" by KD such that it appears that KD symptoms are more advanced ion one side or the other (or in one muscle group vs another)?

dmerry -- Patrick, certainly that could likely contribute to uneven progression.

dmerry -- {welcome dmerry}

don48312 -- HAS THERE BEEN ANY PROGRESS ON WHY SOME OF US HAVE THROAT CONSTRICTIONS, AND CANT BREATHE, WHEN WE GET A COLD/FLU?

dmerry -- don48312, regarding the throat constrictions with other illness, it is true that these muscles are controlled by neurons that are affected in KD. They are likely not working very well to begin with. The illness likely exacerbates the problem.

chuck -- Speaking of the throat - I have had 2 throat dilatation’s performed at John Hopkins. It has certainly enhanced my eating both times.

don48312 -- CHUCK, I'D LIKE TO TALK TO U SOMETIME ABOUT THE PROCEDURE, BUT NOT NOW, K?

susannew -- Chuck: It would be great if you would post information in regards to your throat dilation on the KDA chat forum where other's could benefit from that information also. www.kennedysdisease.org

john-c. -- Chuck: I'd also like to talk to you later. drop me a line.We probably are geographically close to each other.

chuck -- OK - will send to you Patrick. Feel free to contact me also.

chuck -- Sorry, forgot my e-mail address: This email address is being protected from spambots. You need JavaScript enabled to view it. This is concerning throat dilatation.

patrick -- Dr. Merry, as a follow-up on KD research collaboration: Are you familiar with the work of Dr. Lawrence Stern or Dr. Jerry Mendell? How are new ideas or findings shared by researchers who may not have a close working relationship?

dmerry -- Patrick, I know Dr. Mendell and his work. We haven't had much chance to interact, but I hope that we can in the future. It is often a case of meeting at meetings, and we haven't attended any in common.

michael17860 -- {welcome michael17860}

john-c. -- Out of curiosity, DR M., are you in the lab most of the time?

Do you see folks like us regularly? How many KD people have you/do you see now?

jean -- Dr. Merry Could you agree that it is possible, maybe only at times or in special cases, to "reverse" some affected muscles - Example: My handwriting is for the moment better than a year ago. I have not do

something specific or particular

dmerry -- Jean, we don't know much about normal variation in the function of the motor neurons before they actually degenerate. There is evidence, though, from a mouse model for Huntington's disease for the ability of the neuron to get rid of the defective protein. Perhaps variations in the health of the neuron could produce such variation, but this is just speculation. Something we will test this spring in the mice.

speedy -- Hi, I am speedy's wife. He is having problems of choking at night. Any suggestions?

lenj -- Speedy--I used to choke at night but since I started using a BPAP for sleep apnea my choking stopped

susannew -- Speedy: Terry said he's found if his neck is at a wrong angle, he chokes more... he's changed the kind of pillow he uses... he keeps his neck at a more "straight" angle rather than "kinked" at all. When kinked angle he chokes more at night.

don48312 -- I CHOKE WHEN I LIE ON MY BACK, CHOKE LESS IF LIE ON MY SIDE

speedy -- lemj, I am interested in a BPAP. Can you tell me more.

john-c. -- I've found that one sleeping on one side is best; and left is better than right.

lenj -- Speedy I had a sleep study done and they found I had sleep apnea. They ordered a Cpap which blows a continuous flow of air to keep the flap open. It was OK, but then they gave me a BPAP which continuously blows and sucks air into your throat. This cured my sleeping problems and night

choking problems

mobiusloop2 -- What is a BPAP?

lenj -- Mobius BPAP is a machine complete with facemask covering the nose that helps with breathing at night.

susannew -- Dr. Merry, at the FSMA conference, the issue of FDA approved compound screening would begin within the next year... where are you and the NIH in regards to setting this up? When would we expect the findings to be released... 2003?

dmerry -- Susanne, the screening of the FDA-approved compounds is well underway in a number of labs, including my own. All of the groups will meet to share findings in April. I don't know when the information will be released, but we will certainly create a roadmap for further testing at

that time. In my own lab, we are hoping to start testing some of these drugs as soon as it makes scientific sense.

don48312 -- DR M, WHERE IS RESEARCH HEADING IN THE COMING YEAR?

speedy -- Have any of you had the problem of not being able to open the mouth? Speedy cannot open his mouth more than about one half inch.

don48312 -- <---- NP WITH OPENING MOUTH.

john-c. -- Not me, Speedy. Mine opens every day far enough for my foot to go in!

susannew -- speedy: Terry has had no problems with opening his mouth. We have not heard of this before... not to say its not caused by KD, but it might have another cause also... please check with your medical doctor.

speedy -- I was told by an oral surgeon that the muscles that control the opening of the mouth were to weak to open the jaw. This is causing eating problems.

mobiusloop2 -- My "choking" has been described as a "laryngeal spasm", where I can breath out but not in for 30 seconds or more. I can even say NO to efforts to perform the Hiemlich

john-c. -- My muscles for the jaw will give out if I chew something that takes lots of effort (like tough steak) or if I take a large bite. I've learned to cut pieces smaller over the years, but it still quits if I eat

2 pieces of pizza, for example.

lenj -- Mobius--I believe that type of spasm is common to KDA people. I USED TO GET THEM OFTEN, BUT HAVEN'T HAD ONE SINCE BPAP.

john-c. -- mobiusloop2: I have similar problem.NIH looked into it Mid Dec., found no constriction, and, as we watched the swallow on the monitor we could see that if breath was held for 1/2 second after each swallow, the chance of this closing diminished a lot.

susannew -- {welcome susannew}

patrick -- Dr. Merry, My neurologist is Dr. Barry Festoff, also a researcher. Early after I was diagnosed, I consented to have nerve and muscle biopsies done. At one time, he was thinking about getting samples

from other KD patients for comparison, but funding was a challenge. I understand you are busy with fly and mouse models. Is there any need at this time by researchers for tissue samples from KD patients.

susannew -- Patrick: The most useful specimens that can be obtained are not from nerve biopsy, they are post-mortem samples for researcher -- that would be the most useful. (Susanne speaking: You might let us know if you would like to arrange to donate tissues or biopsies in the case you were to pass away... please let the KDA know.)

speedy -- patrick I had a muscle biopsies and it left my left foot numb on the side.

patrick -- Speedy, cool! Mine's on the right side.

billeric -- {welcome billeric}

john-c. -- Are these FDA approved compounds being tested in people or in mice, flys, ???

susannew -- The FDA compound screening is not in people... However, if anything is found to work, they may be able to skip animal testing and go directly to people... clinical trials. The key word is "may". Because these are already FDA approved compounds... if none of these are found to be helpful, then we're talking tens of thousands of other compounds that would have to be looked at. Time and cost are huge factors... There are, correct me if I'm wrong Dr. Merry, 1,200 FDA approved compounds...

susannew -- The current FDA compound screening is being done on cells in test tubes. Dr. Merry would recommend that mouse testing follow to be able to prioritize drug effectiveness before going to human clinical trials.

michael17860 -- DR. merry do you have a time frame where you can see a cure for this disease.

susannew -- A cure for KD and time estimate is tricky. I would certainly hope within... so many people working on polyglutamine diseases and looking for a cure that would work across disease lines that have

polyglutamine disease. I would hope found in a few years.

susannew -- Over the next year... research is to understand the motor neuron of Kennedy's, why don't they work well... developing therapies is very high on our priority list.

London -- {welcome london}

patrick -- We have about ten more minutes to go before our time is up.

jean -- Dr. Merry - Is the research also study the possibility to stop or brake the "fixing process" of "bad products" on the AR.

patrick -- Jean- I'm interested. What do you mean by your question - fixing process and bad products?

london -- hi, I’m new to chats and computers. my husband has Kennedy’s, diagnoised2 years ago. we're just now coming up for air

patrick -- Welcome, London. Mistakes are allowed here (otherwise I would have been tossed out long ago...

susannew -- Dr. Merry just called me to let me know that she has been kicked out of the chat and is trying to log back in. It won't let her back in.

susannew -- I'm going to type for her... bear with me.

john-c. -- Susanne, you're awesome.

john-c. -- Chuck...send me an Email; your address not valid as it was just returned.

don48312 -- ME2 CHUCK, IM This email address is being protected from spambots. You need JavaScript enabled to view it.

john-c. -- Chuch=Chuck

patrick -- I had a swallowing study done recently. I swallowed a variety of liquids, semi-liquids and solid food which were laced with barium. It was done by a speech pathologist in the radiology department. As I

swallowed the different things, a video was made of the flouroscope. Later I watched movies of my swallowing to see where my throat muscles were having problems.

patrick -- speech = speech

john-c. -- Patrick: same here.

don48312 -- <---- HAD SWALLOWING TEST ALSO. PASSED WITH FLYING COLORS

don48312 -- GREAT CHAT DOC, APPRECIATE YOUR TIME AND EFFORT.

susannew -- We have 10 more minutes.

patrick -- We're at the end of our time. Sometimes we can chat longer. Whoever wants to can log off or stay on until we're shut down...

speedy -- Thanks DR Merry

billeric -- Thanks folks, sorry I got in late

mobiusloop2 -- Thanks from me too!

john-c. -- This has been good this AM. Thanks Dr.M. and all.

lenj -- Thanks Dr. Merry, Susanne and all of you. Happy New Year. Goodbye

patrick -- Do we need to increase the size of our chat room? We can ask MDA to raise our limit of chatters.

lenj -- {goodbye lenj}

chuck -- Re-run of my e-mail address: This email address is being protected from spambots. You need JavaScript enabled to view it.

john-c. -- What is the present limit?

patrick -- I believe our limit is 25 at once.

susannew -- the limit is for 25 people ...

patrick -- It matters when we're near full, as if you drop out, and we're very busy, you might not get back in.

susannew -- Looking for therapies that will help motor neurons get rid of the defective protein.

john-c. -- Chuck: send a note to both This email address is being protected from spambots. You need JavaScript enabled to view it. and also to Don please. Thanks.

london -- I'll come back in two weeks thanks

speedy -- See every body latter Thanks and have a nice day.

mobiusloop2 -- {goodbye mobiusloop2}

susannew -- Dr. Merry would like to say that they are very exited about where research has brought us, especially recently, to this point. And the next few years should really bring us to a much better understanding of disease and therapies for disease.

patrick -- Dr. Merry, is it true that KD does not affect the sensory neurons? If so, is the balance problem we have related to weakened muscles and not to the nerves which 'advise the brain' of our body's position?

john-c. -- Susanne, I'll get with you within the week.

susannew -- Dr. Merry thinks stem cell research is very important and has certainly broad applications for disease, including KD, it fits into the group of neuro-degenerative diseases that can be helped by stem cell

research.

susannew -- Dr. Merry personally, the investigators that are strongly working on stem-cell are currently also strongly research SMA, not SBMA (KD)

susannew -- Doing it for SMA because the babies do not have any motor neurons and there is no other therapies.

chuck -- {welcome chuck}

john-c. -- Makes sense for the babies.

susannew -- KD does affect sensory neurons and that can be seen by looking at them in post-mortem tissue and by electro physiology testing.

susannew -- balance could be certainly a sensory nerve problem

speedy -- {goodbye speedy}

dmerry -- {welcome dmerry}

john-c. -- My life is 1/3 over, so the post mortem idea is out of the question for the next 118 years.

susannew -- Thank you so much Dr. Merry for being with us today. It is truly appreciated. Thank you to everyone who joined the chat today!

susannew -- Please visit the www.kennedysdisease.org Web site.

dmerry -- Thank you for having me join you today. Sorry that I got dumped from my server for the last 20 minutes. My best wishes for a happy new year!

michael17860 -- Dr. Merry do you have a time frame for a cure.

susannew -- Have a great day all! See you later and until next time, enjoy life!

john-c. -- Thanks again. Good- by all.

jean -- Bye and a fine 2002 to all


End Chat