Kennedy's Disease Association

A Public Benefit, Non-Profit Organization

"The KDA web site is a source of real information and even stories of other guys with the same problem. All of a sudden I was not alone, and also the information about the research going on gave me hope."

Archives - 2015 and Older Transcripts

Kennedy's Disease Chat Transcript  11-19-2005

Topic: Special Guest -  Lenore K. Beitel, Ph.D.  Research Scientist

Host: Terry Waite


Chat Participants:

Murf
LK-Beitel
Bruce
billeric
Gramp
Gary-KS
gofr
JoeK
FL-DON
Terryw
wolfman
Mamos

BEGIN CHAT

murf entered the room.

LK-Beitel: Hi Murf.

murf: Good morning everyone

Terryw: I bought snow chains for here but have not had to use them in 3 years

Terryw: hi murf

murf: Hi Dr Beitel how's the weather up there?

LK-Beitel: I commented that it's 34F and snowing a bit here.  Normal for Montreal this time of year.

Terryw: Dr. Beitel, keep in mind that people that enter the room cannot see previous typed text. Only text from when they arrive.

Bruce entered the room.

Terryw: Hi Bruce

murf: Burrrrrrr! 52 in Houston this morning

murf: Morning Bruce

Bruce: Morning everyone

Bruce: It was 27 this morning here

LK-Beitel: Good morning

billeric entered the room.

Terryw: It is staying unusually warm here this season. We are usually down in the 50's in the day time. It's been in the 70's all Nov.

Terryw: Hi Bill

billeric: Good morning guys

murf: Lets hope this next storm doesn't hit anywhere

Terryw: we will get officially started in a few minutes

Bruce: Good morning, Lenore, where are you located this chilly morning?

murf: Should be the last one

LK-Beitel: Bruce, I am in Montreal, Quebec, Canada

murf: The colder weather will stop them

Bruce: A beautiful city that I have had the good fortune of visiting a few times in the past.

murf: colder

murf: Can we talk now :-)

Terryw: Well it's time to start.  I am sure that we will get stragglers coming in

LK-Beitel: Sure!

Terryw: I would like to thank Dr. Beitel for joining us today. She is here to answer any questions you may have on research that they are doing.

Bruce: Could we get a short introduction of the type of research that is going on in her lab?

Gramp entered the room.

murf: Dr. Beitel  can you tell us what you and your lab has been doing lately?

Gary_KS entered the room.

LK-Beitel: Our lab been studying the androgen receptor for many years and so we were very excited in 1991 when Drs. La Spada and Fischbeck found the mutation that causes Kennedy's disease was in the androgen receptor gene.  We study the polyglutamine-expanded receptor protein in cells in the lab.

murf: Morning Gary

Gary_KS: Good morning! Gary Uchiyama joined from Kansas City.

Gramp: I am 83 and a half yrs old and am bedridden.  what more can I expect from here ?  I was diagnosed in 2003

Terryw: Hi Gary, I am glad that you could join us.

LK-Beitel: Lately, we have been focusing on the theory that the mutant AR can affect proteasome function in neurons.  Proteasome are like the recycling bin of a cell, and dispose of unused proteins.

gofr entered the room.

Terryw: Welcome gofr

Bruce: Lenore, has there been anything new coming out of your research on the AR?  Anything that will help move forward with a treatment or cure?

Terryw: Gofg

murf: So I guess our recycle bins are full??

Terryw: my fingers are cold

Terryw: numb

LK-Beitel: If the proteasomes aren't working well, then other neuronal cell functions could be compromised.

Terryw: sorry for any typos

billeric: Any breakthroughs dr. Beitel?

Bruce: It is my understanding that the AR can't clean itself (discard) the used proteins and it becomes so clogged that the AR or muscle eventually dies.  Is that correct( in a very simplistic explanation)?

Terryw: Dr. Beitel , do you work with Mice Models or flies in your research?

LK-Beitel: Right now we are doing basic research, and are hoping that once we understand how proteasomes are affected that ways could be found to make the proteasomes work better.

Gramp has left the room.

LK-Beitel: AR=androgen receptor.  Bruce, you're basically right.  The neurons could become dysfunctional if they can't degrade proteins properly.

FL-DON entered the room.

Gramp entered the room.

Gramp has left the room.

Terryw has left the room.

Gramp entered the room.

Bruce: If I may ask, Lenore, how is your research project funded?  Government grants, MDA, other?

Terryw entered the room.

Gramp has left the room.

LK-Beitel: We are only working with models cells, not mice or fruit flies.  Our expertise is putting normal and mutant ARs into cells and determining what happens.

Gramp entered the room.

LouLou: Hi Guys--just stopped in to see how everyone is doing. Dr Beitel, so nice of you to join us today. I am having a pine tree cut down so I will be in and out throughout the chat.

Gramp has left the room.

LK-Beitel: Our research at this point is funded by the Canadian government through the Canadian Institutes of Health Research (CIHR).  In the past, we also had funding from the March of Dimes.

murf: Dr. Beitel - Will you benefit from a tissue donation program?

billeric: Not nice to cut down pine tress LouLou!

Bruce: Thank you for that information.  We are trying to learn more about how research is funded outside the US.

murf: Ron - don't drop it on your car!!!

Bruce: From your research perspective, Lenore, how far along is KD research as related to finding a treatment or cure?

LK-Beitel: Yes,  It's always in the back of our minds that any findings will have to be tested in tissues from KD patients.  We collaborated with Dr. Diane Merry to check if a specific kind of protein cross-linking was present in her model mice.

JoeK entered the room.

Gramp entered the room.

FL-DON has left the room.

Gramp has left the room.

Bruce: The KDA hopes to launch a tissue donation program in 2006.  All tissue will be used for KD research.

murf: We need to look at funneling Canadian donations to your research. Any ideas?

billeric: Will we be contacted Bruce to donate tissue?

JoeK: Is there any stem cell research at this time for KD?

LK-Beitel: I've seen tremendous progress in the 15 years I've been involved in this field.  Researchers around the world are working cellular models, fly model and mouse models of KD.  Particularly, in the last two years a number of treatments have been shown to improve symptoms in KD mice.  I don't know how long it will take for these results to be translated into clinical trial.  However, the paper by Katsuno et al in 2002 showed that reducing testosterone levels could help mice and I understand that the NIH is setting up a clinical trial next year on a related concept.

Gramp entered the room.

Bruce: The KDA will make an official announcement of the new program hopefully in the next three months.

Gramp has left the room.

murf: The Canadian government will not allow a tax deduction for donations made out of the country. We need to find a way to have those funds put into KDA research in Canada.

Gary_KS: JoeK. It is a good subject that I would also like to hear. Thank you.

Terryw: I feel that with the progress the researchers have made that they are very close to a major breakthrough.

Bruce: Lenore, it is my understanding that we are experiencing some technical problems with the chat room this morning where people are being kicked out of the chat frequently or having to re-enter their comments before they are posted.  Sorry

FL-DON entered the room.

Terryw: We thank all the researchers for their hard work and collaboration and hard work.

billeric has left the room.

LK-Beitel: Re Canadian funding.  Perhaps a not-for-profit organization that gives grants could be set up in Canada, so Canadians could get a tax deduction.

billeric entered the room.

murf: We all hope for a cure but I'm very excited about all the research going on lately

LK-Beitel: Me too!

Bruce: Lenore, I think it is wonderful that so many research organizations are collaborating to share information and results.  This has to help the process.

JoeK: I  took  testosterone shots for several --- not sure if it was good or bad. Insurance would not pay for  treatment

JoeK: several  years

billeric: I wore a testosterone patch for a year.  Sounds like a big mistake.

LK-Beitel: I am not a medical doctor, but as I understand it, testosterone shot/patch would not currently be recommended.

LK-Beitel: The thought was that the AR was not functioning well, so testosterone would help.  However, now we know that testosterone could also cause the mutant AR to become harmful to neurons.

Terryw: Dr Beitel,  does the AR always show a mutation in KD?

FL-DON: hindsight is great and error proof.  at the time, testosterone was considered a big help for us.  could be many other dead ends be4 a cure is found.

Bruce: You are making the case for clinical trials before widespread distribution of potential treatments.

murf: We are having difficulty finding someone in Canada to set-up a non-profit as it is a lot of work. If Canadians want to donate funds for your research what would be the best way to get it to you?

murf: research

LK-Beitel: Yes, but it is one particular mutation (an increase in the number CAGs to about 40 or more) that causes KD.  Other mutations in the can cause androgen insensitivity or are associated with prostate cancer.  None of those mutations however cause neurons to die.

Bruce: Can you explain that last comment further about causing neurons to die?  I am a little slow this morning.

Terryw: I have a brother that has all the physical signs of KD, but he has had the DNA test 2 times from different labs and no sign of the AR mutation and his CAG is only 27.  Strange

LK-Beitel: Yes, I understand that clinical trials are usually considered necessary before a new drug is used for treatment.

gofr has left the room.

murf: There might be something there Terry.

wolfman entered the room.

LK-Beitel: Funds:  Perhaps donations could be sent through the Hospital where we have our research lab.  They gratefully accept donations.

murf: OK! we need details please send them to us

gofr entered the room.

LouLou: Sorry that I missed so much of today's chat. I will read what question and answers were asked of Dr. Beitel. Thanks so much for coming on board the chat.

murf: Lenore If you could send details to the KDA e-mail later we may be able to help you with funding here.

JoeK has left the room.

Bruce: Murray, I asked Lenore for that information already.  I'll bring it forward afterwards to the BOD.

murf: OK great!!

LK-Beitel: Bruce, I used the term "neurons to die" rather than neurodegeneration.  In autopsies of men with KD the number of certain types of neurons found in particular areas of the spinal cord (spinal anterior horn neurons) is reduced.  In other words, neurodegeneration is not seen with other kinds of mutations in AR.  Expanded CAG tract in the AR causes the polyglutamine-expanded AR protein to gain a new function harmful to cells.

Bruce: Thank you.  That helps.  So, the $64,000 question (for those of us old enough to remember that program) is:  "What is your educated guess as to when to expect that a treatment will be discovered?

murf: We promise not to hold you to it!

murf: How's the weather in Alberta Wolfman?

LK-Beitel: Back to Terry.  Was it only his blood DNA that was tested?  In certain other AR mutations, it actually has been shown that cells can mutate back to have normal ARs again.  It's possible that the blood cells that were tested reverted to a normal sequence, but the CAG mutation causing KD may be found in other tissues.

Terryw: yes just the blood test.

JoeK entered the room.

murf: I can hear the gears turning

Bruce: That is really interesting.  We hadn't heard that one before.

wolfman: Murf--it is cool--strong winds and snow yesterday.

Terryw: I think my brother needs further examination

Terryw: needs

murf: BUUUUUUURRRRRRRRRRRRRRRRRRR

Bruce: So, what other tests would a person have to determine if they have KD (if the DNA test shows normal but all indications and family history show they could have it)?

FL-DON has left the room.

murf: These chats are so valuable.

LouLou: I have a cousin who I think has KD. He doesn't want to be tested or know if he indeed has KD. Is this a normal response?

LK-Beitel: My best guess it that treatment(s) for KD will be in place in 5-10 years.  Many researchers are approaching the problem from many different angles so a combination of treatments may turn out to be useful.

Terryw: //4

Bruce: Well, being 58 years old, I am more concerned for the next generation including my children and grand children.

Terryw: we have about 5 mins left. Do we have any more questions for Dr. Beitel?

LouLou: Dr. Beitel--it is dedicated researchers who will some day come up with the cure for KD. THANKS for caring.

murf: Me too Bruce. I feel it may be too late for us but I'm not giving up yet!!

billeric: Sure want to thank her.  I am sure we all learned something today.

murf: Reminds me of the joke with the Herring and the frog

Bruce: It has been said before, but you are our hope for the future.  Your efforts are much appreciated.

LouLou: I must go for now. See you guys at the BOD meeting. Thanks Dr. Beitel for sharing with us. Please come again.

Gary_KS has left the room.

Terryw: Dr. Beitel,  Thank you again for joining our chat on your time off. This means a lot to us. Also thanks once again for your research into finding a cure/treatment for KD.

wolfman: murf-- will there be a write-up of today's session?

LK-Beitel: I understand there are clinical tests that can be done by neurologists.  I've read about them but you could look it up in  PubMed by searching for SBMA or "androgen receptor muscular atrophy" or "Kennedy's Disease".

JoeK: My older brother had problem with KD symptom, I have KD I have a niece that has it (rare) and a cousin  and a 2nd cousin with KD

murf: It can't be said enough. Thank you Thank you Thank you Thank you Thank you Thank you

Terryw: wolfman, yes there will be a transcript posted on the KDA site soon.

LouLou has left the room.

wolfman: Thank you, Terry

murf: Today's chat will be posted on the website for those who missed some of it

billeric: Thanks guys.  Good chat

JoeK: Thank Dr.

LK-Beitel: The chat has gone quickly. But it's been my pleasure and I look forward to meeting with you guys again the next time you have a conference.

Bruce: Lenore, again, we apologize for the technical problems we were having.  It makes chatting more difficult.

Bruce: We hope to see you in Atlanta in October of 2006.

Terryw: I guess we will officially end the chat now.

JoeK has left the room.

Terryw: thanks everyone

murf: Next conference will be in Atlanta GA Oct 11-13 2006

mamos entered the room.

LK-Beitel: Luckily, I haven't had any problems.  I hope nobody got too frustrated.  Atlanta ...eh?.  I've never been there.

Terryw: mamos, the chat has just ended, where are you from

murf: I'll save now

mamos: Greece

END CHAT