Robin Williams and the tipping point.

 

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According to CNN, Robin Williams took his life today. He was 63 years old.

Williams should be remembered for creative talent in comedy and acting, and as Larry King also mentioned, he should be remembered as a “genuine caring guy.”

 

Williams appeared to “have it all” in so many ways- marriage, family, money, a career in the competitive world of show business, unbridled talent.

 

He had a diagnosis of bipolar disorder and had dealt with addiction to alcohol and cocaine. He publicly addressed his disease and his decision to go to rehab. Even with all the resources possible at his disposal, he still got to a place that was so dark he could not find his way back.

 

My hope is that he will someday be remembered as the guy who tipped the scales on the stigma of mental illness. Maybe  Robin Williams’ death can become the tipping point for change.

The point where we accepted that mental illness is a disease that needs to be acknowledged without stigma.

 

The point where we realized that we need to help all people with their depression, mania or psychosis.

 

The point where we realized that money spent on mental health is a great investment in our community.

 

The point where we realized that it might make sense to offer voluntary screening programs to determine who is at risk for mental illness, and be able to offer intervention for those that need it and want it.

 

The point where we can say

 

“O Captain! my Captain! our fearful trip is done,

 

The ship has weather’d every rack, the prize we sought is won”

 

 

 

 

 

 

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Is There A Link Between Football and Suicide?

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Last night Frontline aired the documentary “League of Denial: The NFL’s Concussion Crisis”, a report about the connection between chronic traumatic encephalopathy (CTE) and football. CTE is is a form of encephalopathy, a progressive degenerative brain disease, which can only be definitively diagnosed after death in individuals with a history of multiple concussions and other forms of head injury.  This disease is known in boxers who receive multiple blows to the head during their careers. A debate ensues as to whether other athletes who receive multiple concussions and minor traumas over the course of their careers, such as football players and wrestlers, are also subject to brain damage as a result.

The documentary presents evidence that brain damage can result from multiple “sub-concussions” over time, and investigates as to whether the NFL knew about the evidence, ignored it, and failed to provide this information to professional football players.

In the documentary we are told about football players who committed suicide, such as Junior Seau, and players who suffered from depression and dementia, such as Mike Webster.  Pathologists have been able to dissect the brains of some of these players, and have found evidence of CTE.  Also presented are two young men, Owen Thomas, 21-year-old lineman at Penn, who committed suicide by hanging himself in 2010, and 18-year-old Eric Pelly, a high-school athlete who died after suffering a concussion in 2006.  Both young men were shown to have CTE on autopsy.

It is possible that depression and suicide in professional athletes can be due to steroid, alcohol and drug abuse, and the difficulty in adjusting to a new life and employment after a potentially short pro football career. This explanation is difficult to accept for these younger players. It could be possible that there is a link between the brain damage and the ensuing depression, addiction and suicide.

Of course not all football and ice hockey players, wrestlers and boxers wind up depressed or addicted, so CTE is not the only factor. My hunch is that some players are more likely genetically predisposed to encephalopathy, and the repeated minor trauma is the environmental factor which pushes them over the edge.  This could be an explanation for why some teens develop psychosis and others don’t when subject to traumatic brain injury. A meta-analysis from 2011 supported an increased risk of schizophrenia following traumatic brain injury, with a larger effect in those with a genetic predisposition to psychosis.

While more data is needed to show the links between contact sports and CTE, enough evidence is available to encourage more rules and better equipment to protect players from trauma. Children under the age of 16 should not be allowed to play tackle football, as their brains are smaller and still developing, with less protection from TBI. Perhaps pro football careers will have to have limits, such as Steve Young’s self-imposed retirement after he suffered his seventh concussion on a huge hit from Cardinals cornerback Aeneas Williams. As Steve Young says in the documentary “If my knees hurt, we can go deal with it. There is only one place in the body that we don’t understand… the brain is the last frontier.” You only get one brain.

Link to Frontline’s documentary “League of Denial: The NFL’s Concussion Crisis” :

http://www.pbs.org/wgbh/pages/frontline/league-of-denial/

Link to Traumatic Brian injury and schizophrenia

http://www.medscape.com/viewarticle/752208

Genetic Clues to Anorexia Nervosa

Teen Anorexia Treatment

Anorexia nervosa is a complex disorder, a combination of genetic predisposition and environmental and behavioral factors. A recent study looked at 152 genes that are known to be involved in eating behavior, dopamine function, and brain communication to look for genetic variations that might be associated with Anorexia. Three groups of research subjects  were looked at for a total of 1205 case subjects and 1948 controls. Results from the study linked anorexia with two genes: ESR2 and EPHX2

ESR2 is an estrogen receptor. Estrogen receptors are found in both men and women, but play a higher role for women, particularly starting in adolescence. Anorexia is more common in women, and typically develops around the start of puberty, so the connection here at least follows logically. It may come to some as a surprise that men also can have anorexia, and men also need a small amount of estrogen for strong bones and brain function.

EPHX2 ‘s connection is not as obvious. The gene codes for the epoxide hydrolase protein which is involved in the breakdown of fats and toxins. EPHX2 is involved in cholesterol metabolism, and defects in the gene are associated with a disease called familial hypercholesterolemia. Anorexia nervosa patients often display hypercholesterolemia, which is counterintuitive, given the under-nutrition and low body weight of affected individuals. The study says, “It has been hypothesized that low levels of cholesterol may decrease the activity of serotonin receptors and transporters and that significantly lower cholesterol levels are associated with depressive symptoms, impulsive/self-harmful behavior (cutting and/or burning) and suicide thoughts/attempts in anorexia patients. Moreover, lower cholesterol levels have been associated with increased suicidality more broadly, including ideation and attempts, in depressed patients.”

Dr. Schork, one of the paper’s authors said, “The hypothesis would be that in some anorexics the normal metabolism of cholesterol is disrupted, which could influence their mood as well as their ability to survive despite severe caloric restriction.”

The study hopes that their results will provoke interest and more research into the connection between these genes and anorexia.  It’s exciting news for researchers studying eating disorders.

Here’s the link to the article:

http://www.nature.com/mp/journal/vaop/ncurrent/pdf/mp201391a.pdfmale anoerxia

The Brain’s Most Miserable Molecule

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How, you might ask, do antidepressants work?

The easy answer is: We don’t know.  This makes drug treatment for depression and anxiety a guessing game where a multitude of drugs are prescribed in a course of trial and error.  One person may respond to one drug and not another; it’s difficult to predict individual response.  It’s no wonder that people get frustrated and often give up taking meds altogether. Or get kicked off reality TV shows like “Celebrity Rehab”.

Recently scientists discovered a 3D structure of a brain protein receptor, CRF1, a molecule on the outside of cells on the pituitary gland, that releases CRF, hormones involved in regulating our stress response that over time contribute to anxiety and depression.

This is great news, because knowing the structure can help researchers make drugs that mimic CRF1 and block it’s capability of creating the hormone that causing the stress response.

CRF1 is made by the gene CRHR1. I looked up the gene to see if there are any significant known mutations.  In mice models, disruption of the gene (knocking it out, or mutating it) reduced anxiety-related behavior under both basal conditions and following alcohol withdrawal.  According to the Online Mendelian Inheritance in Man “The results demonstrated a key role of the Crhr1 receptor in mediating the stress response and anxiety-related behavior. CRH had been previously identified as a potent mediator of endocrine, autonomic, behavioral, and immune responses to stress and had been implicated in the stress-like and other adverse consequences of drug abuse, such as withdrawal from alcohol.”

Could this mean the end of television shows like “Celebrity Rehab” and “Intervention”? Probably not. Stress response is a necessary tool for survival, honed over time by evolution. We can’t knock out the gene in people, but drugs may be able to mimic the knockout response.

At this time, a gene test wouldn’t reveal much information, but there could be different forms of the gene that produce more or less amount of the protein.

Link to article on CFR1:

http://www.popsci.com/science/article/2013-07/scientists-identify-molecule-responsible-stress-and-anxiety

High cost of drugs getting you down?

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Did you know that there’s now an injectable form of Abilify that lasts for about a month?  Did you know that if you don’t have insurance it costs $1000 per injection?

Wow.

I went to the meeting of the San Francisco chapter of NAMI (National Alliance on Mental Illness) last night for a discussion about medication.  Dr. Ralph Fenn was on hand to answer questions and provide information.  He gave us two great websites to check out

This site compares costs of drugs so you can find the lowest price:

http://www.prescriptiondiscount123.com/check-discount-drug-cost

This site has programs that can assist if you need medication but can’t afford it:

http://www.needymeds.org/indices/pap.htm

For patient assistance programs you generally need to make less than $28,000 a year, which I know is hard to live on in San Francisco, but It doesn’t require that you be on MediCal or MediCare. Check it out.

On a genetic side note: I asked Dr. Fenn if he thought genetic testing for drug response was appropriate.  He agreed and said if he were the patient he would even consider paying out of pocket for it.

Photo:

© Alexey Lisovoy | Dreamstime Stock Photos

Artist. Addict. Afflicted.

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Virginia Woolf. Carrie Fisher. Sinead O’Connor. Linda Hamilton. Richard Dreyfus. Spaulding Grey. Ernest Hemingway. Peter Gabriel. Abbie Hoffman. Kurt Cobain. Russell Brand. Ray Davies.  Brian Wilson. All have/had bipolar disorder.

On Monday night Mike and I rode down to the Mission to attend BAASICS.3: The Deep End- a series of lectures and performances that explored the brain in terms of creativity, mental illness and coping with brain damage.

Dr. Ketter, the chief of the Stanford Bipolar Disorder Clinic, gave a presentation of his research that looks at creativity and mood disorders. He gave a series of personality tests, and temperament tests to a group of people with bipolar disorder, a group of people with major depressive disorder, a group of people unaffected by mood disorders and a group of creative people (fine art, creative writing and design students).  He found that the group with bipolar disorder and the creative group scored similarly in many areas, whereas there was no correlation between the MDD group and the healthy controls with the other two groups.  This could explain why so many creative people have bipolar disorder, or why so many bipolar people are creative.  I asked Dr. Ketter about using the results to work backwards to find out who might be at risk for bipolar disorder, but he expressed that creativity can occur without bipolar disorder so it would not distinguish between someone being at risk for the disorder, or at risk for creativity (heck, in some cultures being creative is just as stigmatized as having mental illness.)

Well, of course I’m always looking for that early intervention angle!!

Aside: Did you know that people with Bipolar 1 have a 61% lifetime prevalence of substance use disorders-more than twice that of people with MDD and 15% higher than people with schizophrenia? And a high suicide rate- approximately 30 times the rate of the general population. That warrants some early intervention.

Dr. Viskontas of Memory and Aging Clinic presented some info on her patients with Alzheimer’s and dementia- and how sometimes creativity emerges with the onset of disease.  She presented some artwork of her patients.  At the end of her talk she pointed out that as a society we are mainly concerned about what we will lose with aging.  We should keep in mind that there may be something to gain.  I like her optimism.  And she sings opera too.

 

 

BAASICS will put the entire talk on their website at some point. (It’s not there as of 5/9/2013) I encourage you to check it out:

http://www.baasics.com/videos/

Link to Dr. Ketter’s study:

http://www.ncbi.nlm.nih.gov/pubmed/20085848?dopt=Abstract&otool=stanford

Dr. Viskontas website:

http://www.indreviskontas.com/

 

“Don’t call it Meth!”

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Two years ago I gave a short presentation to a few genetic counseling students and medical genetics residents on the drug methadone and its effect on a developing fetus. (“Don’t call it meth” I told them, which seemed to be the one thing everyone remembered from my talk.) The info I found said it’s better for the fetus if an addicted mother stays on methadone during the entire pregnancy, rather than try to kick. This was based on theory. One of the residents found me after and said “those little babies addicted to opiates, they just cry and cry and cry. “ That’s all she said; she seemed pretty traumatized by the talk actually. When I saw her a year later, she was pregnant. She sure had balls -of course she’s not an addict, but still, after treating a baby who never stops crying- wouldn’t you run for the birth control pills?
I promised more good news, and here it is. A study published in JAMA on May 1st shows some evidence that variations in two genes, OPRM1 and COMT are related to the length of hospital stay and the need for treatment in opiate addicted babies.
Why is this important?
1) It shows a link between genotype and addiction- which may help explain why some people have a more difficult time with recovery than others.
2) It shows that these genes are active in early years. Some genes are turned on early and turn off at some point. It’s possible that the effects of different genotypes could vary as people age. This might be important in early intervention.
3) It may be possible to tell the mother the possible risk and severity of her baby withdrawing from prenatal exposure to narcotics.
4) It could help with treatment- drug development and early intervention cognitive behavior therapy and other types of therapy.
The link to the JAMA article is here:
http://jama.jamanetwork.com/article.aspx?articleid=1682942

photo: © Shannon Matteson | Dreamstime Stock Photos