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View Full Version : Same DNA deletion paves paths to autism, schizophrenia



leonardo
10-20-2016, 12:22 AM
An interesting article by Carrie Bearden provides information about the latest research, which theorizes that the same DNA deletion paves paths to autism, schizophrenia:
https://spectrumnews.org/opinion/viewpoint/dna-deletion-paves-paths-autism-schizophrenia/.

An excerpt: "Studies from the past several years show that the same genetic glitch — deletion of a stretch of DNA on chromosome 22 — raises the risk for both conditions."

Any thoughts or comments?

Little bit
10-20-2016, 07:43 PM
From the link:

It’s possible that despite the same genetic cause, these seemingly disparate conditions manifest differently because their features show up at distinct times: autism during early childhood and schizophrenia during adolescence.



I remember reading that they old theory was that autism, schizophrenia, and Alzheimer's were the same disorder, just different age of onset, with I'm assuming different progressions. Autism and schizophrenia both occur in my family and my grandma probably qualified for all three at different stages of her life. My grandmother's death certificate says her cause of death was Alzheimer's but she was never formally diagnosed because frankly, her symptoms started a minimum 60 years before, maybe more. My son is diagnosed as HFA, Aspergers type, and is my first cousin's son. Our kids are different, though. Her son was a regressor and mine was not. Mine was more severely affected at first but has gotten better over time, and at 16, was dropped from special ed/IEP and doesn't even qualify for SSI. Hers is an adult but on SSI and may never live independently, or work, but we'll see. Hers takes antipsychotics and mood stabilizers whereas mine just takes ritalin and fish oil. And that the problem with autism, and mental disorders in general: it's a continuum more than a discrete diagnosis. I know my son took a DNA test as part of the diagnosis process and nothing was found but that was a long time ago and they may test for more things now.

Thanks for the link! :beerchug:

Dewsloth
10-20-2016, 08:07 PM
My grandmother's death certificate says her cause of death was Alzheimer's but she was never formally diagnosed because frankly, her symptoms started a minimum 60 years before, maybe more.

Paternal or maternal grandmother? I ask because J mtDNA is supposed to be more resistant to Alzheimers.


AD has been further linked to the mitochondria through reports that the European mtDNA lineages (haplogroups) J and Uk are protective of AD and Parkinson's disease (24, 25) and are also associated with increased longevity (16). This protection has been proposed to result from ancient mtDNA variants that partially uncouple OXPHOS, increasing mitochondrial heat production and permitting adaptation to colder northern latitudes (6, 7). Both European subhaplogroup J1 and haplogroup Uk harbor the same cytochrome b mutation at np 14798, whereas subhaplogroup J2 harbors a different cytochrome b mutation at np 15257. Both of these cytochrome b mutations alter conserved amino acids in the two coenzyme Q10 binding sites, and thus could affect the efficiency of proton pumping by the Q cycle of complex III. Because uncoupling mutations that partially depolarize the mitochondrial inner membrane proton gradient would keep the electron-transport-chain carriers oxidized, these mutants would also reduce mitochondrial ROS production. This would reduce brain oxidative damage and neuronal somatic mtDNA mutations, explaining the protective effect of these mtDNA lineages for AD and Parkinson's disease (16, 26).
http://www.pnas.org/content/101/29/10726.full

firemonkey
10-20-2016, 08:35 PM
There is talk that it is to do with hypo-intentionality(autism) and hyper-intentionality(schizophrenia).

http://schizophreniabulletin.oxfordjournals.org/content/early/2014/09/09/schbul.sbu124.short?rss=1

I have Aspergic traits and former diagnoses of schizophrenia then schizoaffective .


According to my data uploaded to Promethease

rs1858830 CC 2xrisk of autism
rs4307059 TT 1.42x risk of autism
rs6807362 CC increased risk of autism
rs1143674 AG 1.3x risk of autism
rs3923890 AA lower social interaction.Increased risk of autism.
rs167771 possibly more insistence on sameness
rs 7794745 AA normal risk of autism
rs2351299 GG normal risk of autism
rs10513025 TT normal risk of autism
rs 3819331 TT lowered risk of autism

rs7925879 AA Increased risk?
rs3802905 CC Increased risk?
rs6590109 GG Increased risk?


rs1801133 GG lowered risk?
rs6716901 GG lowered risk?
rs2237717 TT reduced ability to recognise faces
rs53576 AA reduced empathy?


Schizophrenia snps

rs27388 AA - increased risk
rs17001266(-;C) - 1.58 x increase in males
rs464049(C;C)-decreased risk
rs4331145(A;G)-decreased risk
rs2272127(C;C)- associated with herpes and schizophrenia
rs2007153(G;G)- increased risk
rs1344706(T;T)- 1.2x increased risk
rs11246226(A;C)-decreased risk
rs2283123(C;C)- normal risk
rs11868035(A;G)-increased risk
rs6994992(T;T)-T allele schizophrenia risk allele
rs6932590(T;T)-1.1 x increased risk
rs1522305(G;G)- slightly increased risk
rs2494732(T;T)- lower odds of psychosis
rs6277(C;T)-1.4x higher risk
rs3746544(C;C)- associated with schizophrenia
rs4894(A;C)- 1.78x increased risk in males

Little bit
10-21-2016, 01:14 AM
Paternal or maternal grandmother? I ask because J mtDNA is supposed to be more resistant to Alzheimers.

My maternal grandmother, but again, I don't think it was really Alzheimer's. That's what the coroner put, or whoever, based I'm guessing what the doctor's said about her in the home she was living in for the last 6 months of her life. She'd had symptoms since at least her 20's, maybe longer, but since her father was a raging alcoholic and her mom was emotionally detached, we'll never really know. There were 5 kids, 4 with issues, 2 incompetent parents, and the medical knowledge of the 1930's. Of the 5 kids, only one seemed to be what would be described as neurotypical. The eldest sister was bipolar, the eldest brother was a long time drug addict and died of it, the youngest brother was described as odd at the time, and my mom now thinks he was aspergers. He died at 21 in a drunk driving crash, he was the driver. Then my grandma, and the youngest sister, who seems completely normal. But of the one normal sister's 3 kids: one neurotypical daughter; one daughter who has emotional/personality issues and substance abuse problems; and the son committed suicide last year in his 50's. He was described as OCD, emotionally abusive to his wife, antisocial, and problems with moods. I knew them well when we were young, but not as adults, so I can't say for sure but from what I heard of the 2 troubled kids, they sound a lot like my first cousin who has borderline personality disorder.

My grandma's case got worse and worse. At first, I think it was mainly anxiety and depression, but not normal versions. And her reactions to them were odd. She'd refuse to leave the house or meet people at the door one day and then be Girl Scout mom the next. She hosted parties, being the life of the party and then decide she wanted to sunbath in her yard for everyone to see, but she would wear bra and underwear, not a bathing suit. By her 40's and 50's, she would go through periods of looking catatonic and her voice and affect were completely flat. She looked like someone who just got off the battlefield to me. She was exceptionally paranoid, believing airplanes and helicopters in the sky were spying and she called the police to say my grandpa was trying to poison her (he wasn't.) And it got worse still, way worse. By the end, me and my family were sent out to my grandparents house to remove my grandpa's guns because we were afraid she might kill him. My grandpa died from blunt force trauma to his head less than a year later which the coroner chalked up to a fall in the kitchen but I wonder. He was her caretaker so she was sent to a home but she didn't last long.

When it comes to mental disorders, I feel like I've seen it all. The only thing I can say I've learned is that diagnoses are not as clean cut as people would like. Of the ones who were diagnosed, it invariably changed over time and became a different diagnosis. And then would change back. My son went through a period where his doctor thought he was schizoaffective but a round of antidepressants and weekly therapy seems to have settled that down. I think that inflammation has something to do with it. I know my son would always suffer a setback when he got sick, lose whatever gains he had made. Going off wheat made a huge difference and if he has 3 wheat days in a row, even he can feel it now. His ticks and OCD worsen and he can become manic or more eccentric. I tried to get my mom to intervene for my grandma when she was in the home, and tell her doctors to take her off wheat just to see, but she never did. I'll always wonder if my grandma would have had a better life if she had just changed her diet?

firemonkey
10-21-2016, 01:27 AM
Children with high everyday levels of a protein released into the blood in response to infection are at greater risk of developing depression and psychosis in adulthood, according to new research which suggests a role for the immune system in mental illness.

Inflammation may be a common mechanism that influences both our physical and mental health
Peter Jones

The study, published today in JAMA Psychiatry, indicates that mental illness and chronic physical illness such as coronary heart disease and type 2 diabetes may share common biological mechanisms.

When we are exposed to an infection, for example influenza or a stomach bug, our immune system fights back to control and remove the infection. During this process, immune cells flood the blood stream with proteins such as interleukin-6 (IL-6), a tell-tale marker of infection. However, even when we are healthy, our bodies carry trace levels of these proteins – known as ‘inflammatory markers’ – which rise exponentially in response to infection.

Now, researchers have carried out the first ever longitudinal study – a study that follows the same cohort of people over a long period of time – to examine the link between these markers in childhood and subsequent mental illness.

A team of scientists led by the University of Cambridge studied a sample of 4,500 individuals from the Avon Longitudinal Study of Parents and Children – also known as Children of the 90s – taking blood samples at age 9 and following up at age 18 to see if they had experienced episodes of depression or psychosis. The team divided the individuals into three groups, depending on whether their everyday levels of IL-6 were low, medium or high. They found that those children in the ‘high’ group were nearly two times more likely to have experienced depression or psychosis than those in the ‘low’ group.


http://www.cam.ac.uk/research/news/mind-and-body-scientists-identify-immune-system-link-to-mental-illness

bryan
05-04-2017, 05:15 PM
The human genome has trillions of DNA, to estimate the possibility of mental diseases based on a few genome that We assume to be responsible to certain conditions are minimal. We can say X person with y genome likely has 1.2x chance compared to z person but it sounds suspicious and I'd question the value of the study.