Monthly Archives: August 2016

Gene hunters find rare inherited mutations linked to bipolar disorder

84 potential mutations, which are rare, seen in the most severe form of bipolar disorder, though not a single one is indicative of the disease. Well at least they are continuously working on the genetics of this illness, so there is the hope for more information and possibly a new treatment and the picture of the DNA gel is nice!

http://www.neuroscientistnews.com/research-news/gene-hunters-find-rare-inherited-mutations-linked-bipolar-disorder

exome sequencing

DNA sequening fingerprint. Credit: FreeImages.com / Flavio Takemoto

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Using so-called next-generation genome sequencing, researchers at Johns Hopkins have identified 84 potential inherited gene mutations that may contribute to the most severe forms of bipolar disorder. About 5.6 million Americans are estimated to have bipolar disorder.

The investigators say their study is one of the first of rare genetic variations in people with bipolar disorder, which, in contrast to most previous studies of common variation, can provide a more direct insight into the biology underlying the susceptibility to bipolar disorder.

See Also: MRI scan sensitive to metabolic changes reveals brain differences in bipolar disorder

And the report on the work published in JAMA Psychiatry, led by Fernando Goes, MD, assistant professor of psychiatry and behavioral sciences at the Johns Hopkins University School of Medicine, affirms the need for DNA from a vast patient population to definitively confirm the role of rare mutations identified using the most advanced genome sequencing techniques.

“One thing we learned is that it will take genetic data from at least several thousand more people with bipolar disorder to confirm that these rare mutations do in fact directly cause the disease,” says Goes. “We are working with the Bipolar Sequencing Consortium to gather more data and collaborators so we can definitively figure out causes.”

Bipolar disorder is a mental illness characterized by periods of alternating episodes of severe depression and ecstatic mania, with the anguished person trying for a happy medium in the swinging pendulum of high and low moods.

Goes says some early genetic studies looking into the cause of the disease used genomewide association studies to search for common, single-letter DNA changes that individually turned out to have very small effects but, in combination, can explain a small proportion of the risk for bipolar disorder. Goes’ team used newer gene sequencing technology that instead can read millions of pieces of DNA at the same time to find even rarer genetic mutations that are rare but may have a more severe effect.

Initially, Goes’ team looked at eight families with a history of bipolar disorder through several generations, likely indicating a significant inherited component. Ultimately, the investigators sequenced the whole genomes of 36 family members with the disease. Examining only the portion of the genome that acts as protein blueprints, they identified 84 rare gene variations that stood out in these family members.

To further the case that these 84 variations were connected to the disease, they compared them to versions of the same genes found in 3,541 people with bipolar disease and 4,774 controls without the disease. Although many of these genetic variations were found to be overrepresented in the bipolar cases, the researchers caution that the data weren’t powerful enough to show that any specific mutation among the 84 rare mutations directly causes bipolar disorder, noting that patient sample sizes likely in excess of 10,000 cases will be necessary to pinpoint rare mutations within a specific gene. The study did find evidence that genes from this study had previously been implicated in other psychiatric disorders, such as autism and schizophrenia, which provides additional support for the overlap of autism and schizophrenia risk genes with risk genes in families with bipolar disorder.

Learn More: Changes in brain connectivity protect against developing bipolar disorder

“Once we can confirm that these rare mutations are associated with bipolar disorder in other samples, our plan will then be to integrate them with the more subtle, common mutations from the earlier genomic studies to better understand the cause of bipolar disorder,” says Goes.

According to the World Health Organization, bipolar disorder overall affects more than 60 million people worldwide and about 2.6 percent of adults in the U.S.


Erotica

I Wanna Be a Writer I have always had writers blood, but it wasn’t until recently that I realized it was stronger than I believed. You may remember in a previous post I shared that I suddenly had a recollection that I made a concerted effort to be a writer when I was in my 20’s. You may wonder how…

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Memory

I was way into the day yesterday before someone posted on facebook about it being the Hurricane Katrina  anniversary.  I was very glad I had forgotten it and was able to have a good day regardless.  (Check the archives to see how deeply the hurricane affected me when it happened).

I wrote another little bit related to my “Trade-In” piece.  I don’t know if it is growing into something bigger or what.  I don’t know if I want it to or not.  I’m comfortable right now doing short little pieces and don’t know if I need to think about doing something longer.   I’m feeling my way along without a map right now, and that feels right somehow.  WE will see.

I see my psychiatrist Thursday and my therapist next Tuesday. I am going to see if I can talk Dr. Bishop into giving me a larger dose of Abilify and see if that helps get me back into remission.  It’s worth a  try right now,  I think.  Anything is worth a try to try to get better.

 


Feeding The Fire: Out Of The Frying Pan…

Ready. Set. Sail! (Mania Trigger warning! Explicit sexual content!) I’m not doing so good right now. I’m really fucking manic. I’ve been manic for about a week or so now and it’s been really taking me out of focus with reality. My brain is going so fast I feel like I can’t keep a string… More Feeding The Fire: Out Of The Frying Pan…

Good Working Day

I’ve been working this morning.  I turned in my assignment for this week for class already and have already gone grocery shopping as well.  I feel much better than last week and thank all of you for thinking about me.

I got a nice little ego boost–I had sent my short piece “Trade-In” to my professor to get her opinion and she had unreserved praise for it.  Her only critique was to make it even more compact and make every word earn its place in it. So I’ve done a little tightening on it and am glad I sent it to her.   Now I’m wondering if  I could do more with it–make it part of a longer  piece.  It would be hard to write but an interesting exercise.  So I am thinking about that this morning.  I’m not sure I’m brave enough to write more like it.   We will see.

I’m also working on a series of prose poems–what comes to mind when I listen to certain albums/artists.  I’ve only done two but think they’re all right. So we will see how that goes.  I’d ultimately like a poem on each artist/album represented in our music collection.  But that’s a  LOT of music to listen to.

Busy week ahead–doctor appointment Thursday and that will be an all morning affair. Just the usual stuff.  But we will see how it goes.  Saturday we’re going to the first State game.  My middle one is playing with the band and we have to get there by 6:30 a.m.  Sheesh.  But I think it will still be a fun day.  Any day at Mississippi State is a fun day.🙂

 


Weekly Wrap-Up August 29, 2016

Mood Odd week for me. I was in just a meh state at the beginning of the week, but by the end I nearly had an anxiety attack. I received a letter from Medi-Cal saying my benefits were ending on August 31 (3 days from now) because I didn’t send in the paperwork they needed to continue my eligibility. The…

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Credit for Prior Learning

When I registered for college and received the finalized statement about my transfer credits there were 20 courses for which I still needed credit.  Three of these (two general education and one for my psychology major) I had taken before but they did not transfer in correctly.  I managed to acquire syllabi from my previous […]

Hey CDC, “I’m not who you think I am!”

This says it like it is.

EDS Info (Ehlers-Danlos Syndrome)

Hey CDC, “I’m not who you think I am!” – by Angelika

I’m offended by the CDC opioid prescribing guidelines, with their assumption that I’m stupid and lazy (if my pain is even real in the first place) and that my doctor is ignorant and negligent.

I’m insulted by the derogatory appraisal of patient behavior and appalled that the CDC has broadcast such a devastatingly negative stereotype of pain patients

Coming from the government’s “Center for Disease Control”, these guidelines stigmatize patients with the authority of the US government behind them.

Read the entire article at the National Pain Report.

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Review – Organic Aromas Diffuser

“I have been given this product as part of a product review through the Chronic Illness Bloggers Network. Although the product was a gift, all opinions in this review remain my own and I was in no way influenced by … Continue reading

Dear Devoted Husband

Dear devoted husband,

I had forgotten the fear that is instilled in you once I drink. You micromanage and follow me around the house terrified there are still secrets. I have battled this disease of alcoholism for a very long time. I do it for me, but I also do it for you. I don’t want you to have to endure me as a monster. Ungrateful. Bitter. Hateful. Throwing daggers of rage directly at you when it truly has nothing to do w you. My demons are big. I’m so sorry it impacts you this way. You feel unsafe in your own home because of the wreckage I cause. It feels unfair. Why should you? Why would you continue to support me after all I have put us through?
I appealed to you in my collapse. If only you could understand my chaos. My self loathing. The roller coaster of bipolar. I reveal the suicidal thoughts. The desire to escape. The uncertainty I can carry on like this. You could probably never understand the way I want you to. But you stay by my side always, through it all. As the alcohol collided with my intense anger I said many things I did not mean. I sincerely regret. You laid in bed with me as I cried it out. Stuttered and stammered to get my painful words across. I couldn’t bring myself to announce the plan I have been mulling over for the past week. The incessant suicidal chatter that is intrusive, never stops and is convincing. I instead rest on your shoulder. I let the tears run wild down my cheeks. While there is a sense of freedom in an emotional explosion, picking up the pieces is another story.
I try to contain my defensiveness as you ask me where I’m going in our 1200 square ft house. I stand up and you flinch wondering if I’m going to sneak a drink. I put my hand on the doorknob and you say..are you really going to get coffee or are you going to drink. Please don’t drink. My self loathing increases w each question. What a fool I am giving in to the false promise of alcohol. What a fool I am to continually test the limits. If you said you couldn’t love me anymore I wouldn’t blame you. Sometimes I hope you do, so I can release this guilt. So I can jump and end this nightmare. But no. Over and over you profess your love for me. All of me.
I must contend with the guilt. With the roller coaster. With the fear. Because you do.