Tag Archives: Mice

Question?: Rett Syndrome

John asks…

Why are diseases that are found to be curable/reversible in mice?

not in humans?

Serious answers only please.

Asking b/c Rett Syndrome ( a devastating neurological disorder) was completely reversed in mice like 3 years ao & I don’t understand why the same basic concepts that made that possible can’t be used in living humans suffering from this horrible disease

OCTOBER IS RETT SYNDROME AWARENESS MONTH
Care Today-Cure tommorow !

admin answers:

Great question and thanks for posting about Rett Syndrome and helping raise awareness!

In the experiments on mice (1 1/2 yr ago) they silenced the MECP2 in the mice (with insertion of a “stop cassette”), and then un-silenced it to see if the effects would be permanent like they believed they would be. So the mice didn’t actually have Rett Syndrome and in RS there is no “stop cassette” built into it to turn on again. So the real outcome of this study showed that once a cure/treatment is found, these girls could possibly be normal again and not neurologically damaged permanently…this is amazing in itself but doesn’t mean we are any closer to a cure.

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Question?: Rett Syndrome Treatment

Joseph asks…

Is autism genetic? I just saw it on the news.?

I just saw a blip on the news that the most recent study has revealed that it is a genetic disease. The scientists are happy because now they can work on a medicine to cure it? Please tell me if this is true.

admin answers:

I think you may be talking about the study on Rett Syndrome which is in the autistic spectrum. RS was found to be genetic in ’99 and there is actually a genetic test for it (my daughter has RS). It is believed that autism is genetic because of its similarities to RS and that it tends to run in families. Yes, a “cure” is possible and RS symptoms have been reversed in mice in this study. You can’t reverse the gene, but you can reverse symptoms with treatment…at least in mice. Its still probably many years before RS becomes treatable and even farther out for autism because they still have not find the gene that causes it yet.

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Question?: Rett Syndrome Treatment

Chris asks…

Do you know about Rett Syndrome???

http://www.rettsyndrome.org

admin answers:

Yes, my 3 year old daughter has it. It is the worst thing that could ever happen to your child. One day she is normal, and the next she can’t talk, stops crawling, won’t make eye contact, has seizures, can’t take in enough calories to maintain a healthy weight, etc. But a few weeks ago researchers reversed RS in mice…a “cure” or treatment is not far off. There is also info here: www.rsrf.org.

Thanks for posting and raising awareness about this horrible condition.

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Question?: Rett Syndrome In Boys

Helen asks…

What is Rett Syndrome?

What is the disorder and how do you get it?
What are the symptoms and how is it diagnosed?
How is it treated? Are there any possible cures?

admin answers:

Its a genetic mutation in the MEPC2 gene on the x-chromosome (which is why most boys who have it will die before birth or in ealry infancy, b/c they only have one x & girls have 2 so if one is “bad” the other still one keeps her alive)

usually diagnosed through a blood test, looking for said gene mutation. If mutation is not found it can be diagnosed thorough the “stages” criteria (go on there website retthelp or rett.org) there are 4 stages- the first one usually over looked b/c the symtpoms are usually milder then the rest.

Treatment is according to sympotoms but can range from scoliosis surgery, GI tube being put in, Anti-seizure medicines, physical therapy, eye gaze communication, & many more
People also try alternative/holistic treatments like accupuncure, massage therapy, etc..

There is no cure…YET!!
They have been able to genetically engeneer a mouse to have Rett syndrome & have been successful in reversing it 100%
& there is always hope that one day I will wake up & hear that its been cured in a living human being. Also they are trying to raise money to try EVERY drug on the market on Rett syndrome mice to see what effects it may have on the syndrome.

I believe there are possible cures..but as of right now we just dont have it

Also as a side note: the range of severity greatly depends on how many of the mutated x’s are activated/deactivated

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Question?: Rett Syndrome Awareness Month

Helen asks…

Why are diseases that are found to be curable/reversible in mice?

Serious answers only please.

Asking b/c Rett Syndrome ( a devastating neurological disorder) was completely reversed in mice like 3 years ao & I don’t understand why the same basic concepts that made that possible can’t be used in living humans suffering from this horrible disease

OCTOBER IS RETT SYNDROME AWARENESS MONTH
Care Today-Cure tommorow !
I meant to write : Why are diseases that are found to be curable/reversible in mice not curable in Humans

admin answers:

Partly because treatments which work on mice models do not always work on humans, since we are obviously not the same animals. Also, there is a big problem with getting clearance to use a treatment on humans. It has to pass so many types of rules and regulations, and then it can be used in clinical trials. Then there has to be placebo groups studied and so on and so on. Then it has to go through more rules and regulations. Salk said that if he were to submit his vaccine to the powers that be today, the cure would still be tied up in paperwork and obstacles.

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Question?: Rett Syndrome Awareness Month

Laura asks…

Why are diseases that are found to be curable/reversible in mice?

Serious answers only please.

Asking b/c Rett Syndrome ( a devastating neurological disorder) was completely reversed in mice like 3 years ao & I don’t understand why the same basic concepts that made that possible can’t be used in living humans suffering from this horrible disease

OCTOBER IS RETT SYNDROME AWARENESS MONTH
Care Today-Cure tommorow !
I meant to write : Why are diseases that are found to be curable/reversible in mice not curable in Humans

admin answers:

Liberalism is currently curable with large amounts of knowledge in most mammals.

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Research On Language Gene Seeks To Uncover The Origins Of The Singing Mouse

Main Category: Genetics
Also Included In: Autism
Article Date: 14 Aug 2012 – 0:00 PDT Current ratings for:
Research On Language Gene Seeks To Uncover The Origins Of The Singing Mouse
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Singing mice (scotinomys teguina) are not your average lab rats. Their fur is tawny brown instead of the common white albino strain; they hail from the tropical cloud forests in the mountains of Costa Rica; and, as their name hints, they use song to communicate.

University of Texas at Austin researcher Steven Phelps is examining these unconventional rodents to gain insights into the genes that contribute to the unique singing behavior – information that could help scientists understand and identify genes that affect language in humans.

“We can choose any number of traits to study but we try and choose traits that are not only interesting for their own sake but also have some biomedical relevance,” said Phelps. “We take advantage of the unique property of the species.”

The song of the singing mouse song is a rapid-fire string of high-pitched chirps called trills used mostly used by males in dominance displays and to attract mates. Up to 20 chirps are squeaked out per second, sounding similar to birdsong to untrained ears. But unlike birds, the mice generally stick to a song made up of only a single note.

“They sound kind of soft to human ears, but if you slow them down by about three-fold they are pretty dramatic,” said Phelps.

Most rodents make vocalizations at a frequency much too high for humans to hear. But other rodents typically don’t vocalize to the extent of singing mice, which use the song to communicate over large distances in the wild, said Andreas George, a graduate student working in Phelps’ lab.

Within the last year Phelps research on the behavior of the mouse has appeared in the journals Hormones and Behavior and Animal Behavior. But one of his newest research projects is looking deeper: examining the genetic components that influence song expression. Center stage is a special gene called FOXP2.

“FOXP2 is famous because it’s the only gene that’s been implicated in human speech disorders specifically,” said Phelps.

Having at least one mutated copy of the gene has been associated with a host of language problems in humans, from difficulty understanding grammar to an inability to make the precise mouth movements needed to speak a clear sentence.

The FOXP2 gene is remarkably similar overall between singing mice, lab mice and humans, said Phelps. To find parts of the gene that may contribute to the singing mouse’s songs, Phelps is searching for sequences unique to the singing mouse and testing them for evidence of natural selection, which weeds out mutations with no likely observable effect from those that are likely to contribute to singing behavior.

“Those two things go a long way,” said Phelps, ” And when you look at the intersection of those two things they give us a really good set of candidate regions for what might be causing species differences.”

The Molecular Connection

Most genetic mutations don’t cause serious problems. They are often a part of the genome that is not expressed, still make a functional product, or are simply drowned out by the amount of genes and gene products that are working correctly.

FOXP2 mutations, on the other hand, can have significant effects on speech because of the gene’s role as a transcription factor – a gene product that helps control the expression of other genes.

This means a mutation in the FOXP2 gene can start a chain of events that can lead to reduced expression, or possibly even no expression, of a number of other genes.

Phelps and his team are figuring out what activates FOXP2 expression and the genes that are expressed after its activation by playing singing mice recording of songs from their own species and neighboring species and observing the gene expression patterns.

“We found that when an animal hears a song from the same species, these neurons that carry FOXP2 become activated. So we think that FOXP2 may play a role in integrating that information,” said Lauren O’Connell, a post-doctoral researcher in the Phelps lab.

Learning what activates FOXP2 and what genes are activated by it could provide clues into how outside stimuli affects gene expression and what genes are important in the understanding and integration of information, said Phelps.

“We ask two things, whether there are sequence changes in the DNA that are associated with the elaboration of the song and whether particular elements seem to be interacting with FOXP2 more,” said Phelps. “That gives us leads into what role FOXP2 might play into the elaboration of vocalization.”

Big Data Mining

Phelps’ uses next-generation sequencing to decipher how FOXP2 interacts with DNA to regulate the function of other genes. The process involves reading tiny fragments of overlapping DNA so that the entire sequence can be deduced. It is a procedure that generates massive amount of data that only the processing power of a supercomputer can handle, said O’Connell.

“You need TACC to do it,” said O’Connell, referring to the Texas Advanced Computing Center, which houses the supercomputers the lab uses. “The more data you have, the more memory it requires, so a lot of the data we can only process on Lonestar’s high memory nodes.”

Lonestar and Ranger are the names of the two supercomputers that the Phelps lab uses to crunch their data, with Ranger running programs in two hours that used to take the lab three days to run on their desktop. Both computers are among the top 100 supercomputers in the world.

Future Applications

At the most basic level, Phelps’ research is asking questions about the biology and behavior of an exotic rodent. But finding out more about the link between FOXP2 and the song of the signing mouse could bring a better understanding into how the gene may contribute to language deficits in people, especially those with autism, said Phelps.

“When people do genome wide association studies in humans the genetic variation tends to occur in huge blocks. So if you get some DNA sequence that predicts a phenotype, like risk for autism, it’s very hard to know what aspect in this very long stretch of DNA is actually important for that,” said Phelps.

By identifying the sequences of DNA that interact with FOXP2 and other associated genes that are most vital to gene function, researchers in the future might be able to narrow down the “huge blocks” where a possible causal sequence is located into smaller pieces. In other words, reducing the size of the metaphorical haystack to a size where finding the needle is a much simpler task.

While a singing mouse may seem like a strange place to look to study the impact of genetics on language, O’Connell says that the advent of gene sequencing technology is allowing a whole menagerie of animals to be used for research that could later be applied to humans.

“I use TACC to sequence a lot of different animals: birds and fish and frogs and mammals and beetles,” said O’Connell, mentioning the other organisms she studies outside of the Phelps lab. “Each of these model systems has something unique to contribute that teaches us about biology that is still applicable to humans.”

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Algernon Does New York

Have I mentioned that I went to New York? Well, someone else went with me.
Also, it’s not embarrassing at all to take photos like this in the train station. Algernon insisted though.

Algernon did a lot of pacing up and down the aisles and making noise in the quiet car, but eventually I settled him down in his seat and he stared out the window and waited for New York.

You can’t tell, but that’s New York out in the gray.
I already told you about the hour-long wait for our cab, but what I didn’t tell you about was how Algernon cursed up a storm. He was all, “THIS IS BULLSHIT!” and “HURRY UP, LOSERS!” and I pretended I didn’t know him, which was difficult considering that he was sitting in my computer bag at the time.

We finally got in a cab, being the third party to jump in front of the people at the front of the line. I don’t understand how someone at the front of the line can keep getting skipped over for cabs and why cabbies are allowed to say, I will drive to here but not to there, but by the time we were second in line and allowed to get into a taxi, I just apologized to the people in front of me and threw tip money at the guy flagging the cabs.

Fortunately, Algernon didn’t antagonize the cab driver.
We were super excited to get to our hotel room and see our view of the city, which turned out to be a view of some random courtyard. Algernon: “Let’s tear this place apart!”
Fortunately, we had plans, so Algernon didn’t have very much time to get outraged. Also fortunately, we got a margarita bigger than him. Algernon thanks you for his booze, Alysia.
Algernon went with me to the American Cancer Society’s Hope Lodge. There he looked up… There’s a point on it. It must be the Empire State Building.
…and he looked down. Algernon: “From up here, they look so small! They look like mice!”
If you follow me on Twitter, you may have seen a lot of photos of Algernon boozing it up over the weekend. That is because when he gets tipsy, he assumes everyone else thinks he as funny as he thinks he is and insists on showing everyone how hilarious he is. Or so he thinks.

He also ate a lot, even forgoing conference food for actual, real-life New York restaurants.

He chose carnitas tacos here. Yum.
In a completely happy coincidence that I didn’t notice until we sat down at breakfast the next day, Algernon and I chose the best table in the joint. Even better if you get how mice and 42 fit together. I can’t help you if you don’t.
Sadly, there wasn’t even enough room for a mouse at the next meal, which was lunch while Martha Stewart was speaking. Fortunately, he doesn’t have much feeling one way or another for Ms. Stewart, so we were able to happily picnic in the hallway. I felt lucky because Algernon is not always this flexible.
You may also notice that it was difficult for Algernon to find properly mouse-sized food. Until, that is, he happened upon the perfect grilled cheese sample in the expo hall.
But when you eat a cupcake, it’s best to go large. Especially if they’re from the Magnolia Bakery.
Sometimes it’s nice to get your very own Algernon-sized bag of personalized M&Ms from the best t-shirt lady in the business.
The only problem is when someone *cough*Stimey*cough* traps you in a cake plate. Mice always have to be on the lookout for shit like that.
Even if I was kinda mean to Algernon, he made more friends at the conference than I did. Remember the scary photo of all the Hot Pockets yesterday? They’re slightly less intimidating when there is only one of them.
Algernon is all about inter-species love. He found a buddy to give him a ride around the expo hall in the form of a slipper. Actually the cow only let him ride for a second, mostly because the cow was attached to a human foot at the time. The human that the foot was attached to was very accommodating though.
Not everyone was so kind though. Abbie’s kid’s crocodile was frankly kind of an asshole about the whole thing. Never turn your back on a crocodile.
Fortunately, Algernon had a rave to go to in the form of the Sparklecorn party, so he was able to put the crocodile incident behind him. He may or may not be attached to a beer bottle with a glow stick.
Algernon got a lot of action during the conference. A lot of the ladies were very into him, which makes me happy that I gave him that bath last week. One of his favorite ladies is Olivia from Fourth Breakfast, also known as my rodent guru.  This is also one of my favorite photos (by Lady M) of all time.
I did know that the ladies would love Algernon. What I didn’t see coming was this: Algernon is #nintendoenthused.
After the debauchery—and, yes, it was debauchery—Algernon chilled out in this vibrating tub by Kohler. Just FYI, if anyone is looking for a gift, this product would totally be acceptable.
Algernon had a really lovely time in the expo hall. You know why? Because brands seem to think that people dressed in funny costumes will get a lot of attention and end up in blog posts because they’re hilarious.

Hook. Line. Sinker.

Algernon met and took a photo with every single person dressed in a degrading costume.

The Lorax (with his own badge) was perhaps the least degrading.

Unless someone like you cares a whole awful lot,nothing is going to get better. It’s not.
When we first came upon this banana, he looked morose. Dude swore he was just paying attention to something else, but I prefer to think that he was sad that he’d drawn the short straw and had to be the banana.
The banana suit may have been degrading, but Kikkoman had them beat. I may have shrieked with joy when I saw this lady. She was a good sport. I will buy that brand of soy sauce just to thank poorbottle lady for dressing up for my amusement.
Just in case you didn’t get enough of the Jimmy Dean guy last time, I thought I’d share with you his and Algernon’s special moment. I wonder if he resents having to go to trade shows in a giant spiky ball.
I took Algernon with me to celebrate being honored in the Voices of the Year event, but he was pissed that Not Even Wrong was being honored. He was outraged—OUTRAGED—that Algernon Does Disney wasn’t on the list. In his defense, he did work hard for that post.
We did, of course, attend a lot of sessions together. You know how sometimes you’re looking for a parking spot in a crowded parking lot and you see an empty one and get all excited and zoom up to it only to find that a motorcycle had parked there?

That’s exactly what it was like with Algernon in the panels.


Happily, Algernon and I are of the same mind when it comes to sitting in the front row. What better place to be obnoxious by taking photos instead of paying attention.
After all the fun we had, it was so sad to have to say goodbye, but all BlogHers must end and even Algernon had to say goodbye to his best girlfriends.
By this time, we were old hands at cabs, having ridden in them twice already. We do have a question for those of you who live in New York though: How often do taxis actually run over pedestrians? No reason for the question. It just seems…possible. Also, how many people barf in cabs? Not that I did, but…oy.
Penn Station was lovely. Thank God for Annette, or Algernon and I would never have found our way in. We would have probably ended up in line for some event or other at Madison Square Garden and that probably wouldn’t have ended well, what with our suitcases and all. Plus, Algernon hates loud music. It has to do with his ears.
You know how you’re not supposed to look like a tourist in New York? Well, obviously, I had failed miserably by this point in my trip, but do you know what makes you look like even more of a tourist than taking a photo of your luggage in Penn Station? Taking a photo of the pigeon wandering by your chair in Penn Station. Especially if you put a stuffed mouse down first.
Three short hours, that one time re-boarding the train, and a frantic dig through my luggage for my car keys later, Algernon and I were back in my car and headed home to see the munchkins. And Alex. I guess. Mental note: ALWAYS write the location of your car on your parking ticket.
Algernon really enjoyed his time in the sun (so to speak, ha, ha). He’s having a little bit of a hard time readjusting to life inside my handbag. Fortunately for him, we’re going on a family vacation soon, so he’ll get to do some more traveling. Because you know Algernon; he’s a globetrotter.

Thanks for sharing his latest adventure! Now it’s off to the baths again for him!

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And the Fun Keeps Rolling Along

You guys, thank you. Thank you all for your therapist recommendations and thank you for your assurances that I’m not alone and thank you for your kind words. They all matter so much to me. Thank you. I’m feeling a lot better this weekend than last week, so yay! Also, now I have some good ideas of places to look for therapists instead of just opening the phone book and picking someone because their name makes them seem like someone I’d like. That hasn’t always worked out so well for me in the past.

*****

There is, however, more sad news. After Gerbil died, I cleaned out the mouse cage and put Squeaky back in there with a paper towel for her to shred to keep her busy. She spent the next two days just kinda sitting on top of the paper towel and not inside her little hut, which was unusual. Squeaky and Gerbil used to curl up together inside their house all day long. It was strange to see Squeaky out of her house so much. Today, we woke up to blood on the paper towel. Evidently her skin condition was not controlled as well as I had thought.

We decided that it was her time and that to keep her alive with skin that probably really hurt was cruel.

Naturally, I’d recently bought four pounds of mouse food.

I took one last trip down to the vet office. Squeaky, you will be missed. We loved you.

Tenacious Squeaky in her less gruesome days.
After I brought her little body home, Alex buried her next to Gerbil. Instead of using a spoon this time, he pulled out a pick ax. That Alex is (a) strange, and (b) has evidently never seen a shovel.

So now, instead of five little friends running around in their cage next to my desk, they are buried under our butterfly bush. Even Algernon had to pay his respects.

There but for the grace of God go I, he reportedly said.
Goodbye, mice. You were good pets and fun to have. I just wish you lived longer.

*****

Things have been a little grim here of late, so I’m going to give you this palate cleanser from Sam’s last soccer game of the season. I don’t have any actual photos of the game, but I do have this photo of Sam after he got his year-end trophy.

He works really hard at soccer for not a lot of glory.
Sorry for the weird crop on that photo. I had to eliminate the kid standing behind him and opening Photoshop to do so seemed far too onerous.

 I do also have this photo that I took a few weeks ago when Sam was goofing around on the sidelines. It pleases me for many reasons.

Sam had some weird objections to the photo. Something about “yoga”and “levitation.” Some days I don’t get him.
*****

In other news, here is what I am facing down over the next few months:


*****

Now I’m going to go stare at my television set for a few hours, because I’m pretty sure that doing that helps with the dysthymia ennui. That and eating my feelings. I might do both.

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