![thesmithian:
[good morning]](http://25.media.tumblr.com/tumblr_m09fhvRRD01qcwnv4o1_500.jpg)
Pizza-Stuffed Spaghetti Squash
A tremendously delicious meal that is a healthier alternative to your typical pizza pie! Super easy to make, and you may find your dinner guests fighting over it.
Get the recipe at Vegan Yack Attack!
![thesmithian:
[snackable]](http://24.media.tumblr.com/tumblr_m0c5guyeJm1qcwnv4o1_500.jpg)
Drawing on fascinating studies in cognitive, behavioral and evolutionary psychology, The Righteous Mind is splendidly written, sophisticated and stimulating. It may well change how you think and talk about politics, religion and human nature.
more.
![neurolove:
I had a great question from floating-point that I started to answer earlier this week. Let’s get back to ApoE e4. Depending on the number of alleles (you can have up to two, one from each parent), there is an increasing risk of developing Alzheimer’s.
People with no ApoE e4 alleles have a 9% risk of getting Alzheimer’s. Compare that to a 27% risk with one ApoE e4 allele and 55% risk with two ApoE e4 alleles. Overall, this mutation accounts for about 40% of all Alzheimer’s cases. The only other genes that are related to Alzheimer’s are causal, which means if you have that mutation, you WILL get Alzheimer’s, but they only account for about .5% of all Alzheimer’s cases. A few of these genes are AP1 and Presenilin 1 and 2, for example. The interesting thing is that most of these genes affect APP (Amyloid-Beta Precursor Protein), which is cleaved (cut into a smaller piece) to become amyloid-beta.
It is important to note that amyloid-beta is a normal protein and even with normal aging, there are some amyloid-beta plaques that form. This makes it extra complicated. It seems that it might have to do with how amyloid-beta is cleaved (the lengths of the protein once it has been cut normally) and how well it is broken down that might lead to this normal process becoming Alzheimer’s. There is some evidence that ApoE might help breakdown amyloid-beta and that the e4 allele might not do it as efficiently as the other variants of ApoE, which leads to pathological build up and widespread amyloid-beta plaques. It isn’t entirely clear at this point, however.
I’ve also added a picture to help show the Alzheimer’s brain and degeneration that occurs in the disease progression (above). It’s pretty marked post-mortem (after death), as you can see.
[Image Source]](http://25.media.tumblr.com/tumblr_ly9k80LAnv1qb6etto1_500.jpg)
I had a great question from floating-point that I started to answer earlier this week. Let’s get back to ApoE e4. Depending on the number of alleles (you can have up to two, one from each parent), there is an increasing risk of developing Alzheimer’s.
People with no ApoE e4 alleles have a 9% risk of getting Alzheimer’s. Compare that to a 27% risk with one ApoE e4 allele and 55% risk with two ApoE e4 alleles. Overall, this mutation accounts for about 40% of all Alzheimer’s cases. The only other genes that are related to Alzheimer’s are causal, which means if you have that mutation, you WILL get Alzheimer’s, but they only account for about .5% of all Alzheimer’s cases. A few of these genes are AP1 and Presenilin 1 and 2, for example. The interesting thing is that most of these genes affect APP (Amyloid-Beta Precursor Protein), which is cleaved (cut into a smaller piece) to become amyloid-beta.
It is important to note that amyloid-beta is a normal protein and even with normal aging, there are some amyloid-beta plaques that form. This makes it extra complicated. It seems that it might have to do with how amyloid-beta is cleaved (the lengths of the protein once it has been cut normally) and how well it is broken down that might lead to this normal process becoming Alzheimer’s. There is some evidence that ApoE might help breakdown amyloid-beta and that the e4 allele might not do it as efficiently as the other variants of ApoE, which leads to pathological build up and widespread amyloid-beta plaques. It isn’t entirely clear at this point, however.
I’ve also added a picture to help show the Alzheimer’s brain and degeneration that occurs in the disease progression (above). It’s pretty marked post-mortem (after death), as you can see.
[Image Source]
Image using an electron microscope shows a cilium growing from a neuron. (Gleeson lab).
Scientists Link Evolved, Mutated Gene Module to Syndromic Autism
A team led by researchers at the University of California, San Diego School of Medicine reports that newly discovered mutations in an evolved assembly of genes cause Joubert syndrome, a form of syndromic autism.
Joubert syndrome is a rare, recessive brain condition characterized by malformation or underdevelopment of the cerebellum and brainstem. The disease is due specifically to alterations in cellular primary cilia – antenna-like structures found on most cells. The consequence is a range of distinct physical and cognitive disabilities, including poor muscle control, and mental retardation. Up to 40 percent of Joubert syndrome patients meet clinical criteria for autism, as well as other neurocognitive disorders, so it is considered a syndromic form of autism.
The cause or causes of Joubert syndrome are not well-understood. Researchers looked at mutations in the TMEM216 gene, which had previously been linked to the syndrome. However, only half of the expected Joubert syndrome patients exhibit TMEM216 gene mutations; the other half did not. Using genomic sequencing, the research team, led by Joseph G. Gleeson, MD, professor of neurosciences and pediatrics at UC San Diego, broadened their inquiry and discovered a second culprit: mutations in a neighboring gene called TMEM138.
“It is extraordinarily rare for two adjacent genes to cause the same human disease,” said Gleeson. “The mystery that emerged from this was whether these two adjacent, non-duplicated genes causing indistinguishable disease have functional connections at the gene or protein level.”
Orange Belgian Waffles with Chocolate Sauce
A great breakfast for two that combines the subtle taste of oranges with a rich chocolate drizzle. Make this and you won’t be disappointed!
Get the recipe at Vegan Yack Attack!
“The Watsons Go to Birmingham—1963” by Christopher Paul Curtis — describes the civil rights era from the perspective of a young (and extremely mischievous) boy and his family.
more.
