Kennedy's Disease Association

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"The web site acted as a central organizing influence for the sharing of information and brotherhood. Without the KDA, I was alone, as this disease is very rare and even my neurologist was less than fully knowledgeable."

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Kennedy's Disease Chat Transcript  05-1-2010

Topic:  Special Guest - Lenore Beitel - Research Update

Host: Mike Goynes


MikeG: morning Ron!
UTE: Good Morning Mike, Ron and Lenore
MikeG: hi Lenore
Lenore Beitel: Good morning!
MikeG: glad everything worked
MikeG: I had switched to Google Chrome but swiched back to IE... just in case.
Ron: Hi Mike How are you?
Lenore Beitel: No problems.
MikeG: hanging in there Ron - how about you?
Ron: OK.
Bruce: Good Morning World
MikeG: hey Bruce
Ron: Hi Bruce, Lenore, and Ute.
MikeG: we're starting off at 80 degrees this morning - going to be a hot one!
Bruce: Morning, Lenore. How are things up your way?
Bruce: Morning, Ron
UTE: Morning all from snowie Utah
Bruce: SNOW!!!
MikeG: how cold is it there??
Lenore Beitel: Fine. It should go up to about 70 today and I can do some work in the backyard.
Ron: We will be in the 80's todau also.
MikeG: good - I hope it's warm on the 14th when I go to Baltimore
UTE: It's been in the 30's overnite and 40 to 50 during the day
MikeG: wow - still winter... for FL
Lenore Beitel: We had a couple inches of snow earlier this week, but its gone now.
Bruce: Mike, where are you staying in Baltimore?
MikeG: the Comfort Inn near BWI
Bruce: Morning Stan
MikeG: gives us access to DC and the Inner Harbor
Stan: Good morning everyone. 63 and rain here in Michigan
Bruce: We love the Inner Harbor. It was a favorite place for us to visit when we lived in PA
MikeG: yep - it's going to be a nice reunion
Bruce: Good eating at the Harbor. We also enjoyed taking the water taxi to Little Italy.
MikeG: we only have about 30 people going - I thought it would be closer to 50
Ron: What reunion is it, Mike?
Bruce: Lenore, will you be able to make it to our conference in San Diego in November?
MikeG: my Air Force reunion
Ron: Cool
Lenore Beitel: Absolutely! I'm looking forward to it.
MikeG: 10th annual
Bruce: Great!
loshimo11: Good morning everyone. This is Luis Shimomura joining in from a very sunny San Francisco.
Bruce: Morning Luis
Lenore Beitel: you guys (and your families) are an inspiration for me.
Ron: Hi Luis
Bruce: Lenore, we are all one big happy family
MikeG: looks like everyone is signing in for another great chat. We are honored to have Dr. Beitel as a guest today.
MikeG: Dr. Lenore Beitel is a Research Scientist at the Lady Davis Institute for Medical Research at the Jewish General Hospital in Montreal, and an Assistant Professor in the Departments of Medicine and Human Genetics at McGill University. She investigates how alterations in the androgen receptor gene and protein cause diseases such as androgen insensitivity syndrome, prostate cancer and spinobulbar muscular atrophy (Kennedy's disease). Her current research on molecular causes of Kennedy's disease focuses on determining how the polyglutamine-expanded androgen receptor affects the ubiquitin-proteasome system for protein degradation. Lenore is also a 2009 recipient of a KDA Research Grant for $10,000.
loshimo11: Good morning Bruce, Ron and everyone else that's online.
billeric: Good morning guys from warm Phoenix
MikeG: Welcome to our chat today Dr. Beitel!
Lenore Beitel: Thank you.
Gary_KC: Good morning. This is Gary joining in from Kansas City. It is cloudy with 53 degrees this morning.
MikeG: Please update us in on your research!
Bruce: Lenore, I do not understand poly ... and ubiquinton ... Hep
Bruce: help
Bruce: Morning Paula
Paul Sramek: Good Morning
Lenore Beitel: To start with you probably know that the androgen receptor gene has a variable number of CAG repeats.
loutudor: Good morning, All
Paula: good morning
Bruce: Morning Lou
Lenore Beitel: When the cells sees CAG codon in the gene it puts a glutamine into the androgen receptor protein. Many CAGs (more than 40) equals a polyglutamine-expanded androgen receptor protein.
Lenore Beitel: Ubiquitin is a tag that be added to a protein. It can change the function of a protein like the androgen receptor, or be a signal for sending a proteins to be degraded by the proteasome or autophagy pathways.
Lenore Beitel: Ubiquitin is sort of like a baggage tag that will send your luggage to San Diego or Miami.
Lenore Beitel: Good so far?
Bruce: YUP
loshimo11: So far so good.
Lenore Beitel: OK. I really liked your analogy in the KDA Spring newsletter. In that Kennedy's disease is like having an engine with a clooged oil filter.
MikeG: So it may be possible for Ubiquitin to redirect the aggregate to be disposed of properly?
loutudor: We need a replacement oil filter...:)
MikeG: :)
loshimo11: So Obiquitin is responsible for my luggage ending up in Phoenix instead of LAX?
Bruce: Thanks, I try to simplify things so I can understand them.
loutudor: ...and we need a better bag handler!
Lenore Beitel: It should say clogged oil filter. Proteasomes are sort of like the recycling bins of the cell, and yes if we could get the polyglutamine-expanded AR to be disposed of properly that may help. The right ubiquitin tags can direct proteins to proteasomes for disposal.
MikeG: I have an app for that... :)
Lenore Beitel: We are studying if the expanded AR has different ubiquitin tags than the normal AR.
Alexandre: Good morning from Brazil
loutudor: Hello Brazil!
MikeG: hi Alexandre
Lenore Beitel: We can also isolate active proteasome from cells and study them in test tubes to see if they are inhibited by the polyGln-expanded AR.
Alexandre: Nice to be with you again!
loshimo11: Hello Alexandre!!! How are you my friend??
Lenore Beitel: Hello, Alexandre.
Alexandre: Hello all folks!
Bruce: Is the ubiquitin the tag that sends a normal AR into a nucleaus for cleaning?
Lenore Beitel: Bruce, the normal AR goes to the nucles when it binds hormone. There are proteasomse in the nucleus that degrade the normal AR, but not a lot of research has been done on how it gets ubiquitinated (tagged for disposal). Even less work has been done for the polyGln-expanded AR.
Lenore Beitel: We are also want to test if the polyglutamine-expanded AR can stop other proteins from being degraded, thus helping to ""building up junk in the engine.""
poohsdaddy: Hello all... sorry I was late. Not sure what this all means. Can you clarify ??
TerryW: Hello
loutudor: Hey Terry
MikeG: it's pretty deep, poohsdaddy - we have our boots on... trying to keep up. :)
MikeG: hi Terry
Lenore Beitel: Basically, cells have a way to get rid of old, junky proteins. We are studying whether the mutant AR can interfer with this clean-up.
poohsdaddy: That's okay... I'm slower this morning. Thanks.
Alexandre: Good morning Terry, I hope you are fine!
mikewhite: Good evening (in Australia)everyone. To be honest, I don't know where to start. All the chat content is way over my head. I have only recently been diagnosed and left in limbo with regards as to 'what happens next'. I have to thank terry for giving some guidance and hopefully I can get some answers to questions I am no doubt sure you have all been asking over the years
Ron: Hi Terry--I miss talking with you.
TerryW: Hi Ron, we need to more often. I will call you this week
Lenore Beitel: We want to know if the mutant AR gets the wrong ""baggage tag'' and isn't cleaned-up like it should be.
MikeG: mikewhite - we're not too much ahead of you. We're patiently awaiting the next possible clinical trial but not sure what it will be.
loutudor: Lenore, would non-carriers be able to donate (xyz) to help a relative affected?
mikewhite: I went to see my genetisist this week and was told I had a 'repeat count' of 47. She went onto tell me stuff that went over my head. Is there any research that suggests the repeat count can be used as a barometer on progression of KD?
poohsdaddy: What's the hypothesis for this research ?? What are we trying to prove or dis-prove ??
Lenore Beitel: Lou, I'm not sure about that. Potentially, drugs that help the neurons get rid of the mutant AR may help.
loutudor: Thank you...
Bruce: Mike, that has not been studied, but researchers speculate that the high the CAG count the earlier the onset and greater the progression. Again, it has not been studied.
Lenore Beitel: Bruce, there's a good paper from Japan that studied over 200 men and shows some relation between CAG count and age of onset progression. However, I don't think those results can used to predict a single person's progression.
Bruce: Thanks, that is the first I heard of that study.
mikewhite: OK. No study on this then.!! Is anyone prepared to share their 'scores' as far as repeats are concerned to start a study?
Bruce: I mentioned in my blog that there appears to be nothing uniform about the disease (differences in symptoms, age of onset, progression, etc.).
poohsdaddy: What's the ""aim"" of your research ?? are you using lab animals ?? getting ready for a ""clinical study ??
mikewhite: Thanks Lenore
poohsdaddy: Is there anything we can do to help ??
mikewhite: I have no idea how KD develops and I suppose I just want answers in a frustrating, control kind of way.
mikewhite: Like I said. I was left in limbo once diagnosed.
TerryW: Sorry all, have to go, The Rodeo is calling us.
MikeG: how old are you Mike?
poohsdaddy: Mike, I have the same outlook... I was diagnosed nearly five years ago.
mikewhite: I am 47. I have 'felt' things weren't right for a while now
Ron: Mike--you re left in limbo bcause not too many doctors know much about KD.
MikeG: I had the same experience at about 40. I had been running 10K races in my 30s and coming in about the middle of the heard...
mikewhite: I agree. I am starting to realise that now
poohsdaddy: Ron, Ditto... I usually end up explaining it to each of my doctors.
loutudor: My son was diagnosed at age 32...
Bruce: Mike, we all initially go through a period where we have more questions than answers. It is normal. We can help answer some of those questions and concerns.
MikeG: then at about 40 I could barely finish a race.
MikeG: I'm now 62 and have the same CAG as you - 47
Lenore Beitel: Hypothesis: I am trying to prove that the mutant AR does (or doesn't) affect proteasomes in test tubes. We did some studies in cells several years ago, that suggested that proteasome activity was inhibited by the mutant AR, but we want understand the molecular mechanisms. If we have positive results, that may lead to testing some drugs in the lab.
poohsdaddy: Thanks Lenore .... That's kinda what I thought you're doing.
MikeG: Are there any drugs that are FDA approved that could be candidates for testing?
mikewhite: I have 2 cousins with KD. Aged 48 and 45. MikeG, how is your health now ( I know this is no barometer as to how I will progress )
MikeG: I'm still walking!
billeric: I am 75 now and dealt with this for 20 some years. This chat provides us with good info and tips.
mikewhite: Good. I'm glad to hear that and ....long may it continue.
poohsdaddy: Mike, Many of us are on Facebook... and keep in touch between these chat rooms.
MikeG: no stairs or even steps but I'm still able to walk a short distance without a cane.
mikewhite: I feel the frustration ebbing just being here
billeric: Me too Mike
poohsdaddy: We all help provide moral support to one another. None of us are ever alonee !
Lenore Beitel: MikeG, likely tere are some that are FDA approved, but testing would involve setting up a reliable tests first in test tubes, then in cell models, and then animal models of KD.
Paula: If any of you guys have wives or significant othere who would benefit, we have a chat especially for helping us to deal with KD from that perspective.
Lenore Beitel: Hi Paula!
mikewhite: I need to find out what my cousins are doing regarding this. They need support as we all do. Has anyone ever tried to find out how many people are recorded as KD sufferers?
MikeG: Are you familiar with ASC-J9 and what it does with the expanded AR?
Paula: Hi, Lenore
poohsdaddy: Hopefully, we'll be able to find something that will help our children and grandchildren. I'd do almost anything for them.
MikeG: Mike, I'll send you an email with that info.
Bruce: Right there with you on that, poohsdaddy
Lenore Beitel: I'm familiar with ASC-19, but I'd have to look over the paper again to see how it relates to my studies.
mikewhite: Thanks MikeG EMail ad is This email address is being protected from spambots. You need JavaScript enabled to view it.
MikeG: ok - got it!
Bruce: Mike, the estimate is 1 in 40,000
Ron: 1 in 40,000 males--Right Bruce.
mikewhite: No wonder there isn't that much time spent on KD as opposed to some other debilitating conditions.
Bruce: Yes, I believe that is correct. There are a lot of carriers out there never diagnosed.
MikeG: I don't remember exactly but I thought it was aimed at the mutant AR.
poohsdaddy: I've got 4 in my family... 3 of my cousins. My brothers and nephews are all negative.
Bruce: Yes, Mike, we are considered a RARE disorder and until recently, most doctors were unaware of KD and it is often misdiagnosed initially.
mikewhite: I have 2 daughters aged 9 & 7 who will be carriers. My brother hasn't been tested yet. My doctor had to 'Google it' when I told her I suspected KD....!!!
UTE: Lenore, this is probably a very dumb question...but do we know how many cells there are in the typical blood cell??
Lenore Beitel: At a conference recently, Dr. Guy Rouleau, an neurologist in Montreal, said he is is an expert in diagnosing KD and can easily tell it's not ALS. I wish all neurologists could tell the difference.
poohsdaddy: My neurologist learned about KD from me with the help of the KDA website. Thanks to all of you !!
mikewhite: I agree
loutudor: The Univ of Miami, FL is excellent...
Bruce: Lenore, we probably receive 2-3 emails a month from individuals who were initially misdiagnosed (most often with ALS). The diagnosis is getting better, but still needs to come a long way.
poohsdaddy: NIH has also been great with their research.... and many others are working on it, right ??
Lenore Beitel: I hope to have a chance to explain my research to you in person at the KDA conference in San Diego. I know it seems like a difference language, but I'll work on simplifying it.
Bruce: Yes, there are a lot more labs involved in KD research today than just ten years ago.
Ron: Well--I must go for now. Hope you all stay healthy till next we chat. Bye.
Bruce: Take care, Ron
Bruce: Lenore, I believe it is the names that through us off. Once someone explains that the oil filter is clogged, we get it.
Bruce: throw us off
mikewhite: Lenore. Good luck with the research. I am going to try and attend the conference but logistics are a problem for me. I WILL endeavour to be there though.
Bruce: That would be great, Mike.
mikewhite: Is the KD conferenece aligned with other conditions? MD for example?
Lenore Beitel: OK. I was once on an airplane that couldn't take off because there was something wrong with the oil filter. We caught the next flight, which almost didn't take off because the coffee filter wasn't working. I gree working filters are essential.
Bruce: Do you mean the KDA (Kennedy's DIsease Association)?
Bruce: lol
mikewhite: Yes sorry Bruce. Apologies for my ignorance as to all this. I'll get better.....honest.!!8)
loshimo11: Gotta go. Please stay healthy and upright!!!
Bruce: When it was explained that the AT could not penetrate the nucleus and be cleaned and because of that the AR died (sufficated because of the trash), I understood that.
poohsdaddy: Thanks all... Hope to see you on the 15th. Bye.
Lenore Beitel: UTE, there are many type of cells in blood, white blood cells, red blood cells, etc.
Gopher: One quick question about surgery...we gave doctor info..he told us outdated info and anthesia is so much better today???
mikewhite: I have to go too. Many many thanks to you all. I will spend some time on the blogs as I am sure the questions I have are not new.
mikewhite: Take care everyone.
Bruce: Mike, the KDA is its own non-profit and is not associated with the MDA. Even though many of us also attend the MDA clinics and also receive some support from the MDA, there focus on KD is relatively minor compared to the KDA's focus is totally on KD.
mikewhite: Thanks Bruce. Keep smiling. Mike
Bruce: Gopher, that is good info. Can you send us more updated info so we can post it?
MikeG: Thank you very much for being out guest today, Lenore! Paula & I are going to have to go as well. We're taking Pauline Mengel to lunch. Tomorrow we're going to lunch with Don & Judy Schings. It's a KD weekend! See you all on another chat. Stay vertical!
Bruce: Thanks Mike and Paula, enjoy and say HELLO to our friends.
Gopher: It was just an off the hand comment. We have an appointment on May 19 and surgery May 24...Will ask at U of M
mikewhite: Thanks from me as well Lenore. Best wishes. Mike
loutudor: Thanks Mike ...Thanks, Lenore!
Lenore Beitel: Thanks for inviting me.
Alexandre: Thanks Lenore... good bye all!
Paula: Thanks for taking your Saturday to chat with us Lenore, Hope to see you at the conference.
Gopher: We were asking here in Mankato with local doctor.
Bruce: Lenore, thanks for attending our chat today. We appreciate all that you do to help.
billeric: Bye guys. Good chat. Stay upright
Gary_KC: Lenore, thanks great study for KD. Bye all.
UTE: Lenore, your info was insiteful...thank you
Gopher: Thanks Lenore
Lenore Beitel: Bye for now.
Bruce: Thanks to everyone for attending.
loutudor: Until next time...stay well
aristotelesanato: Buenos dias, alguien es de lengua española, someone speak epanish?
aristotelesanato: i am a new KDA diagnosticated and i wish share experiences,
aristotelesanato: I from Venezuela