Welcome to From the Spectrum Podcast.
This is a podcast about autism.
It is my goal to explain what is autism.
I intend to use a mixture of scientific literature, personal experience, and opinion.
With opinion, I will explain why I feel the way I do and give examples.
I will provide links to various references for each episode.
For each episode, we will discuss various aspects of autism.
The From the Spectrum Podcast will mostly avoid causes of autism.
And I will try avoiding the increase of diagnoses of late.
This is like playing tug of war with barbed wire and I don't think I want to travel down
that path.
For today's episode, we will spend time preparing for a future episode on the balance, or imbalance,
of excitation and inhibition.
Inhibition is activating, turning cells on, and this can be locally, within a specific
region of the brain, or brain areas, or this can be distal, or activating whole systems,
regions, or critical parts of the nervous system.
That is excitation.
Inhibition is the complete opposite, inhibition turns cells off, turns systems or regions
off, and this can be locally or distal.
Inhibition quiets or stops things.
So for today's episode, we will discuss a few known genetic factors associated with
autism.
We will discuss the implications to our biology that leads us to the deficits in social communication
and interaction, the sensory processing problems, and the restricted and repetitive behaviors
briefly discussed in the last two episodes.
We will cover what is going on upstream.
Now, I will have a moment when I touch on a significant region of interest of our environment
that is a cause.
This is rare, and I will not make it a habit.
However, for this episode, we have two objectives.
One, learn about the biological aspects, and two, prepare for the Excitation Inhibition
episode.
The first item is P10, which is short for Phosphate and Tensin.
P10, P-T-E-N.
P10 is a loss of neurons or cells, cause overgrowth and increase excitatory synapses,
formation, and function.
Synapses are how cells communicate, connect to each other.
A major theme today involves the synapses and the synaptic cleft.
There's small space in between the cells and how they communicate and connect.
More on that in a moment.
Further, P10 loss is involved with neuronal, hypertrophy, hyper-excitability, seizures,
remember the closeness to focal epilepsy, and other autistic-like symptoms.
P10 implicates soma size, migration, spine density, and dendritic overgrowth.
A lot of biology here.
For the soma, the soma is the cell body, cells and glia cells.
The soma is the area dendrites branch off and give the cells multiple paths to communicate
and travel.
Migration is how cells form and develop.
They migrate to common areas for better communication and forms spatial relationships.
Staying of it as moving closer to friends and family.
Moving closer to what brings you together, the common factors.
Spine density helps communication within the cells and the destinations.
Certain cells have and need specific amounts of spine.
Finally, dendritic overgrowth.
One idea is synapses strengthen dendrites and causes them to grow.
Think of it as a big tree with many thick branches and then compare it to other less
dense trees.
Regardless, the nervous system and how we live and operate as a living organism needs
proper sizes of these biological components that help cells operate.
Dendritic growth essentially is how we organize and connect ourselves inside with the outside
and vice versa.
So really, we are talking about how cells act.
How they act and function when called upon.
Are they doing what they are supposed to be doing or not?
P-tendis function is linked to inhibition abilities and glia cells and burst firing and
action potentials.
Again, are the cells acting like they should?
And is their vehicle functioning and are their roads they travel down appropriate?
This brings us to some glia cells and myelination.
When cells fire, they need to fire efficiently and in the correct direction.
Synapses is like turning a gravel road into a highway.
The highway acts like to cells path traveling to the synapses.
Into the cleft.
Into the connecting synapses.
Normally, the cleft, the space in between is 10 nanometers.
You cannot imagine how small this is.
There are 1000 nanometers and 1 micrometer, also called a micron.
1000 nanometers for 1 micron.
The thickness of a sheet of paper is about 80 microns.
I wonder if the cleft is implicated with autism.
Maybe in some parts, like those hyperconnected areas.
Maybe they are smaller and larger.
I don't know, I'm just thinking.
I'm just thinking if this is something involved with autism.
With P-tend, scientific literature offers hope.
The hope is rapamycin.
That's called mTOR, which means mammalian target of rapamycin.
A side note, if you pull up research on aging or longevity, rapamycin is likely involved.
Rapamycin and NAD are extremely popular regions of interest for aging and longevity.
Okay, so what is it doing for autism?
A complex of rapamycin, and don't worry about the specifics with each complex.
Just a function of it.
A complex of rapamycin, the data show prevention of increased soma-sies, proper migration and
spine density, and dendritic growth.
MTOR regulates cellular health whereby anabolic cell growth and catabolic cell death.
This is why it is so crucial in the aging and longevity literature.
Cinescence always wins.
In other words, senescence, how we age and break down, is undefeated.
Next is 16P11.2.
Think of a deletion in our biology.
Deletion and duplication are common with the genetic functioning.
This is an implication to our serotonin.
Serotonin comes from the RAFE.
The RAFE is at the brain stem and responsible for the serotonergic release in the brain.
The dorsal RAFE connects to the ventral striatum.
They communicate.
Remember the discussion on the striatum.
A region of interest for us.
Specifically in the ventral striatum is the nucleus accumbens.
The nucleus accumbens is one of the most fascinating areas of the brain and body.
For a brain region, it is large.
And it has two parts.
A shell and a core.
There are serotonergic receptors in both.
The nucleus accumbens is related to motivation, emotional processing, learning.
It has a significant amount of NMDA receptors that are crucial for learning.
It is also involved in reward prediction error, pleasure, addiction, and analgesia or endogenous
pain response.
Now, essentially everything named here can be drawn back to autism.
A crucial part of the nucleus accumbens is socialness.
A future episode will dive into the roles of oxytocin and vasopressin and socialness.
Specifically, autism versus non-autism, extroverts to introverts, and interesting.
Female autistics and male autistics and reviewing some work by the Gendar Consortium.
However, for the sake of today's discussion, the serotonin system from RAFE to NUCULUS
ACCUMBENS and the implications to socialness is an interest.
Likely, in the near future, cell-specific targets of serotonin and the NUCULUS ACCUMBENS
could rescue social deficits.
If decided by those with social implications caused by autism or any other social disorder
or problem, if and when this becomes an option, you have to make that decision.
See the links below from Stanford.
I want to do a hard stop here, a very hard stop, because it needs to be conveyed.
It needs to be known.
I will not make a habit of this, but serotonin is synthesized from tryptophan.
Tryptophan is an aromatic amino acid, which is a type of protein, a very special type
of protein.
This is critical and not well known information.
Tryptophan makes serotonin and melatonin.
Okay, so what's the big deal?
The big deal is, as you know, autism came around starting in the late 1930s.
Tryptophan, being an aromatic amino acid, activates for UVB light wavelength, specifically
around 200 nanometer light.
That's within the UVB spectra.
Over the past 130 years or so, humans are responding to the shift in the light sources.
This is true, and we are poorly responding to it.
This is true too.
Proteins and gene expression and various aspects of our biology responds differently and requires
different types of light.
This is true.
For instance, do you know anything about melanopsin?
Autism is a downstream cause of the shift from sunlight source to the artificial light
environment that suffocates us today.
And the circadian rhythm mismatch.
We have the ability now to extend the day to see light after dark.
Human biology has not evolved for that type of environment.
You can look up any health trend and notice that we are trending in bad directions.
Few, if any, of our health measurements are doing good.
Many things are on the rise like chronic diseases, Alzheimer's, diabetes, autism, and so forth.
All of these are new in the medical literature.
Know this.
Know this about light sources and our biology and the various functions of the photoreceptors
across our body.
The brain and skin are connected, extremely upstream, much farther upstream than the genetic
implications that we are discussing here.
The brain and skin are neuroectoderm.
You won't hear that.
You won't hear that any place else, essentially.
Like amino acids, activate all three of them for UVB and fluorescent for UVA, roughly 353
nanometers.
You won't hear this on any other podcast about autism or any university or research
center.
Being involved with the centralized paradigm.
But if you do, please reach out to me and give me their information.
Discussions like this, we need those discussions so we can understand what is going on recently
with our health.
I will provide a link and a warning.
This will offend your beliefs.
So already we got you.
Already that says something.
Will you take a step towards that path of critical thinking and explore these subjects
and topics that I just communicated to you?
These things are somewhat obvious if you know the biological processes.
Or will you simply take the easy path, the centralized path, and shut it down?
Now back to the genetic discussion.
With 16p112, there are implications with excitation and inhibition.
That is an imbalance between the two types of cellular functions.
Two cell types.
All of this information today is a step up to properly cover the EI imbalance.
16p11.2 implicates cortical development.
Same as the artificial light mentioned previously.
That has severe implications to our cortical development.
Just like the light sources I mentioned earlier.
And the myelination, brains in our biology aren't developing properly.
16p11.2 implicates that cortical development.
But what is not known is unknown.
That is causing the complications with these things that we're discussing today.
Remember the artificial light exposure.
Remember that tech light exposure.
Remember the protein that I mentioned with melanopsin.
And remember the circadian mismatch.
Humans, modern humans, are essentially the only species with a circadian mismatch.
It's wild.
And remember the lack of aromatic protein activation.
Remember these modern world problems.
Remember the development of electricity and that power grid.
And remember autism came about as early as the late 1930s with Leo Kanner and Hans Asperger.
Next is calling 3.
Or call 3.
C-U-L 3.
Call 3 is a gene that makes a protein called callin 3.
Call 3 is highly associated with autism and other neurodevelopmental disorders.
Now you know how I feel about the word disorders.
I don't really like it.
In the critical stage of development when we're young, call 3 is a part of a pathway
connecting 16p11.2 proteins to determine brain development.
A call 3 deficiency in prefrontal area implicates social interaction and sensory gating.
Or a way of determining sensations to perceptions.
How we respond to physical phenomena in the environment.
Remember with autism it is typically referred to as an abnormal response to our outside
environment.
Call 3 is associated with this.
Also, call 3 deficiency causes low functioning in NMDA, that learning receptor I mentioned
a little bit earlier.
Call 3 deficiency also implicates stereotypic behaviors in the striatum.
And lastly, neuronal excitability, that crucial EI relationship.
The whole reason we are exploring this upstream components of our biology.
Next is shank 3.
Shank 3 is well studied in autism.
Shank 3 is involved in tissues and brain.
It involves synaptic connections or how cells connect and speak to each other.
Shank 3 also involves the dendritic and spine formation.
So more of that, specifically shank 3 encodes proteins for the excitatory synapses.
Again, synapses are how cells connect and communicate.
They move across the body or they move across the brain.
Shank 3 will be involved in the sensory processing challenges of autism.
In scientific literature, shank 3 knockout is shown to implicate neurotransmission in
the striatum, whereby synaptic density were implicated.
And behavior functioning shows repetitive behaviors, anxiety and deficits in social interaction
and poor motor coordination.
Does all of that sound familiar with autism?
Something I have not mentioned yet is dyspraxia, which is seen in autism.
It's basically poor motor coordination, especially at younger ages.
In short, think about how cells talk to each other and areas of the brain connect.
Synaptic is neurorexine and neurolegans or neuroligans.
This is more synaptic development and functioning.
Neurorexines are presynaptic.
Neurolegans or ligands are post-synaptic.
The synaptic cleft is remember 10 nanometers.
That is the space in between each synaptic area.
Neurolegans work alongside glia cells.
Remember the Myelination part.
A type of glia cell called astrocytes builds the myelin.
It helps build the myelin.
Myelination creates that highway of connection.
It turns gravel roads into nicely paved highways.
That's Myelination.
Remember the explanation about B-movie.
Remember how things just come fast.
Remember how efficiency is a key characteristic of autism if you understand your superpowers.
If you align with your ability, that becomes a superpower.
It is my goal that more people with autism and others around them, especially others
around them, understand autism is a collection of superpowers and super deficits.
Let's worry about the super deficits.
More focus on those awesome superpowers.
Neurologan 3 mutations enhance repetitive behaviors.
Neurologan 3 deletion impairs synaptic inhibition, some more EI imbalance, and those medium spiny
neurons in this triadome.
Remember the purpose of the spines.
CNT-NAP2, our old friend, is a Neurorexin family member used in excitatory synapses
formation.
CNT-NAP2 impacts, highly impacts, metabolism in the medial prefrontal cortex.
The medial prefrontal cortex has the highest resting metabolic rate.
The medial prefrontal cortex is involved in decision making, memory integration, social
cognition, understanding of the self, cognitive flexibility, excitatory and inhibition with
medial prefrontal cortex transmission includes social behaviors and helps determine mood.
As we wrap up today, I hope you understood a little bit about the genetic complications
associated with autism.
Further, what's more impressive is what these genetic mutations are causing.
A lot with the synapses and cells, a lot with implications to our sensory processing and
that balance.
This balance is going to be crucial of excitation and inhibition.
You want, you need that healthy balance.
However, because there is an imbalance or potential imbalance, we will get into the
superpowers and super deficits, the things that we can do and we can do well and the
things we can't do or we struggle to do.
So beyond the lookout for an episode about excitation and inhibition.
Lastly, know and understand those implications with the light, light environment and our
biology.
If anything, you can improve your life by at least understanding this, at least making
minor adjustments so your life can be better and healthier.
If you would like to contact me, please do.
Any types of questions, any types of comments, complaints, criticism, whatever the case,
I will love to hear and have a conversation with you.
You can email me at info.fromthespectrum at gmail.com.
Lastly, thank you for listening to From the Spectrum podcast.