Fog Days of Summer

Here is some insight from a fellow native San Franciscan. A nice discussion of weather, mood and meds.

crosswalk confidential

Foggy night with fireworks at Aquatic Park Foggy night with fireworks at Aquatic Park Photo: Shawna Scott/Flickr

After a couple of weeks of abnormally warm weather in June, San Francisco has returned to its regularly scheduled summer weather programming. I have many childhood memories of bundling up in warm clothes to “watch the fireworks” from various local vantage points and mostly seeing colored flashes in the fog.

I can’t remember feeling oppressed by the grey days of endless fog growing up in San Francisco. Perhaps it was because I didn’t have anything to compare it to. It’s similar to living with anxiety and depression—you never question what your “normal” is until you’ve experienced something different. Though I don’t remember being gloom-sensitive as a kid, my mother would complain regularly about the lack of light in our basement apartment (undoubtedly struggling with her own depression). I was also lucky to have an annual break from the urban fog…

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Stem Cell Research Provides New Approach to Study Bipolar Disorder

 

Researchers have detected mitochondrial abnormalities, and differences in neuronal firing, in young neurons from patients with bipolar disorder by using induced pluripotent stem-cell (iPSC) technology. These stem cells are created from patient’s skin cells (fibroblasts) or from patient’s white blood cells (lymphocytes). It is possible to take skin cells or white blood cells and reverse engineer them back to the state where they have the ability to grow into different types of cells (basically back to the very early embryo state when the original template cells are just beginning to turn into different types of cells.)  Then these stem cells can be grown in the lab and encouraged to become neurons. By imaging these created neurons from people with and without bipolar disorder, researchers have seen a difference in neuron firing between people who respond to lithium treatment vs those who don’t respond to treatment. This hyperexcitability activity of young neurons in bipolar disorder was selectively reversed by lithium treatment only in neurons derived from patients who also responded to lithium treatment.

Mitochondria are structures found within all cell types, and they are the organelles that help provide energy for the cells, along with other important functions. Mitochondria contain their own DNA separate from the cell’s nuclear DNA. Mitochondria DNA is mainly inherited from the egg, therefore the maternal side of the family. In one study, in about 80% of the bipolar patients, hippocampal mitochondria were smaller than even the smallest of the control subjects’ mitochondria. The hippocampus is the elongated ridges on the floor of each lateral ventricle of the brain, thought to be the center of emotion, memory, and the autonomic nervous system. Differences in expression of the genes in the mitochondria were also found between subjects and controls. Is it possible then that a greater predisposition to bipolar disorder could be influenced by the maternal family side?

Brain research is complicated because tissue is difficult and dangerous to extract, and studying brain tissue after death doesn’t give us a good picture of cause and effect across the lifetime. In post-morteum brain tissue, abnormalities could be due to a number of different environmental exposures (such as drug treatment) or trauma such as concussions that are difficult to control in living subjects. A model that does not use living subjects is difficult to create.

However,  researchers have been able to use stem cell from patients to create tissue in the lab for study.  They can take stem cells and “engineer” them to create many different types of tissues; in this study they use patients’s stem cells to create neurons. The hyperexcitability of the neurons is one early indicator of bipolar disorder, and this model of iPSCs in this disease might be useful in developing new therapies and drugs aimed at its clinical treatment.

Here is a link to the study in Nature:

https://www.ncbi.nlm.nih.gov/pubmed/28242870

And a link to one of the earlier studies:

https://www.nature.com/nature/journal/v527/n7576/full/nature15526.html

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ACA pulls out of Tennessee after the state approves discrimination bill.

The American Counseling Association, of which I am a member, decided to move their national convention scheduled in Tennessee in 2017 to San Francisco. Tennessee legislature passed a bill in April that allowed counselors to refuse to see a client if counseling that client involves “goals, outcomes or behaviors that conflict with the sincerely held principles of the counselor or therapist.” This law is in direct opposition to the ACA code of ethics.  Thelma Duffy, ACA president who’s term just ended stated “We believed it was important that the ACA take a public and powerful stance in opposition to this bill, and relocating provided us with that opportunity. We also believe that is was important that we communicate with our members who voiced deep concern about continuing to hold conferences in Tennessee in light of the new law. And ultimately we made the move based on our long held belief of nondiscrimination and our commitment to advocacy for all people.”

Way to go ACA! I’ll feel a little more pride when I write that yearly dues check next time!

Leader of Landmark Gene Research on Schizophrenia to Speak at NAMI Convention

I’ll be there…will report back. Here’s the blurb from the NAMI website

By Marcy Baer | May. 20, 2016

Dr. Steven McCarroll, who led the research team responsible for a study that examines the gene that may be a risk factor for schizophrenia, will speak at this year’s NAMI National Convention, July 6–9 in Denver. Dr. McCarroll is an assistant professor in the Department of Genetics at Harvard Medical School and the Director of Genetics at the Broad Institute of MIT’s and Harvard’s Stanley Center for Psychiatric Research. The research findings revealed in Dr. McCarroll’s analysis were published in the Feb. 11 issue of the journal Nature. Titled “Schizophrenia: From genetics to physiology at last,” the article reviewed how the study identifies “a set of genetic variations that are strongly associated with the risk of developing schizophrenia” and “provides insights into the neurobiology of this destructive disease.” The basis of the research is a worldwide collection of DNA from more than 100,000 people to find genetic clues to mental illness. Called C4, the gene isolated by Dr. McCarroll and his team is known to work in the body’s immune system tagging viruses for destruction. Until now, the gene had no known role in the brain. A highly complex gene, C4 is difficult to identify because it takes various forms and structures in different people. Many researchers believe there is a strong relationship between the immune system and schizophrenia, so much of the work focused on finding that connection. Research and collaboration among neurobiologists, immunologists and other genetic experts confirmed that C4 damages the brain because it accelerates a process called synaptic pruning. According to Dr. Bruce Cuthbert, acting director of the National Institute of Mental Health, in many cases synaptic pruning can help the brain. “It’s like clearing away the underbrush so your brain can function more efficiently,” he explains. “But in people with this overactive version of the gene,” Dr. Cuthbert continues, “it may be like having an over-energetic gardener who prunes back so much that the bushes die off because they don’t have enough branches.” Dr. Cuthbert views this study as a “genetic breakthrough,” and “a crucial turning point in the fight against mental illness.” Dr. Eric Lander, a professor of biology at the Massachusetts Institute of Technology and founding director of the Broad Institute, believes this research may provide a new understanding of what causes schizophrenia in terms of brain biology. “For the first time,” Lander says, “we’re opening the ‘black box,’ looking inside, and seeing how the disease really arises. In my opinion, this study is the most important paper in schizophrenia since the disease itself was defined more than a century ago.” While such science may take years to translate into treatments, Dr. McCarroll is optimistic. “The finding connects all these dots, all these disconnected observations about schizophrenia, and makes them make sense,” he says. You can hear Dr. McCarroll’s presentation as part of the NAMI Convention’s Research Plenary on Saturday, July 9, from 8:45 to 10:30 a.m. For more information and to register for the NAMI National Convention, go to NAMI.org/convention.

 

 

C4 and Schizophrenia

When I hear “C4” I immediately think of the television series “Lost” and explosive material. C4 is also the shortened name of Complement component 4- one of a group of proteins that work together to make the immune system.  The C4 gene that codes for this protein is on Chromosome 6, and everyone has different variations in this gene, referred to alleles. Researchers from the Broad Institute, Harvard Medical School and Boston Children’s Hospital, recently published a study with a hypothesis that a key cause of schizophrenia involves different alleles of this gene. The researchers noted that people who had schizophrenia were more likely to have a certain variation that promotes neural “pruning.”

Pruning is part of normal brain development during childhood, and especially during adolescence. Pruning is the process where synapses in the brain are eliminated. It is believed that the purpose of synaptic pruning is to remove unnecessary neuronal structures from the brain; as the human brain develops, the need to understand more complex structures becomes much more pertinent, and simpler associations formed at childhood are thought to be replaced by complex structures.

It may be that different alleles cause different amounts of pruning. Perhaps less pruning, which could lead to too much information being retained, could be a risk factor for mental health.  This could be one of the factors contributing to schizophrenia- there are likely many genetic and environmental factors. More knowledge of these mechanisms may be helpful in creating or refining treatment.

Here is the link to the study’s abstract:

http://www.nature.com/nature/journal/v530/n7589/full/nature16549.html#access

Resta’s Rules of Genetic Counseling

A reblog from Bob Resta- This is an excellent and funny summary of some of the challenges of genetics, genetic counseling and health care in general. My favorite one is #9.

The DNA Exchange

You will not find these pearls of wisdom in Psyche and Helix, Psychosocial Genetic Counseling, A Guide To Genetic Counseling, or the Journal of Genetic Counseling. I am certain that they will never be the source of correct responses on genetic counseling board certification exams. These insights are based on personal observations made during my 3+ decades of genetic counseling practice. There is almost no research to back them up but they are gospel truth nonetheless. Well, at least they seem true.

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1) All interactions with patients are primarily psychosocial encounters, no matter how much we or patients consciously or unconsciously try to focus on facts and figures.

2) All research studies are flawed in some way. Therefore, all facts, figures, and risk predictions that we so confidently quote are wrong, with the possible exception of Mendelian segregation ratios (but even there…). Quite often, several seemingly well designed studies…

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“Schizophrenia” might include eight genetically distinct conditions

A study from the Washington University School of Medicine reports that Schizophrenia could be a catch phrase for eight genetically distinct conditions. This makes some logical sense as symptoms and drug response vary for people with schizophrenia. People rarely fit into discrete categories.

We know that these are not single gene conditions. This research looks at how multiple genes can work together. Someday it might help with a genetic risk profile.

Go to news.wustl.eustl.edu/news/pages/27358.aspx for more info. I’ll post a link to the abstract when I’m back home and at a better computer.