Using Whole Exome Sequencing to Identify Speech Disorder

Recently, Dr. Worthey in partnership with Dr. Shriberg found an issue in the genes of eight of ten children studied that have Childhood apraxia of speech (CAS).

Using whole exome sequencing, the scientists determined that multiple genes are involved in the cause of CAS, which can severely interrupt a child's cognitive and learning process. They found that the primary problem in the genes was deletions within the nucleotides. 

Up until now, only a few genes had been associated with CAS, but until whole exome sequencing was done, scientists could not see that it was multiple genes acting together causing the disorder versus individual genes. 

Using whole exome sequencing has proven to possibly be the best way to study some disorders versus trying to study individual genes looking for the cause. And the best part, it's cheaper and more time efficient than single gene sequencing. 

Can you think of any other disorders than are already associated with a few genes that would benefit from having whole exome sequencing done to see all of the genes involved?

Here's the link:
Next-gen sequencing identifies genes associated with speech disorder

Yet Another Way to Determine Ethnicity... Oral Bacteria!

A research team at Ohio State has found a possible new way to determine ethnicity: the oral bacteria under your gums in your mouth! Kind of weird... I know. 

The group took 100 individuals of races: African American (non-latin), Hispanic, Caucasian, and Chinese to test on.

The bacteria, 398 species from all parts of the mouth, were sequenced for their DNA since living conditions of these bacteria is not really possible in a Petri dish. 

What did they find? Only 2% of the bacterial species matched in all of the participants. The breakthrough came in that certain species of bacteria were specific to each ethnicity. Pretty cool huh?!

The researchers concluded that it may be due to each ethnicity's DNA that causes certain strains of bacteria to be present in only one ethnicity. Also, this may give insight as to why Hispanics and African Americans are more susceptible to certain gum diseases versus other ethnicities.

The group did find that the best results of bacteria exclusive to ethnicity are under the gums. This could be due to mouth washes and toothpaste constantly being used on the surface bacteria. 

I ask you this again, what happens with people that are more than one ethnicity?

Here is the link:
Oral Bacteria Create a 'Fingerprint' in the Mouth

Marmoset Monkeys are Like Humans! Kind of...

Scientists have recently studied marmoset monkeys interactions with each other and learned that these monkeys act much like humans: they can correctly hold a conversation! Well, that's speaking for most humans... 

The research team watched marmoset monkeys throughout different environment setups and noticed that these monkeys carry out conversations almost exactly like humans. So, what all do they do that proves this? They only speak one at a time, they will wait about 5 seconds after the other talks before they speak, they listen quietly, they don't yell over the other, and they can go back and forth calmly for five plus minutes sending out full length noises. I wonder if they have arguments like humans do?!

What do other animals such as gorillas and such do? Yell over each other using random short noises and stop after a few seconds. The noises are never continuous or alternating, characteristics of a conversation.

So, what does this finding help to do for the researchers? The researchers plan to study marmosets in the womb and early interactions with their parents. They hope the new findings will give some insight as to what goes wrong in early communication in humans causing disorders.

I wonder if these monkeys can have "conversations" with humans?! I want to buy one and try it!

Link:
Mamoset Monkeys Know Polite Conversation

New Bioassay to Give Insight on Suspect's Ethnicity

Researchers have come out with a new bioassay that could possibly distinguish the ethnicity of possible suspects or missing persons based on DNA left at a crime scene.

Creatine kinase and lactate dehydrogenase were the two biomarkers looked at in Caucasians and African Americans. The levels were amplified using multienzyme/multistep biocatalytic cascade to distinguish the differences in the levels for the two ethnicities. They tested these levels on fresh blood and age 24-hour blood. The results showed conclusive differences. 

What does this mean for crime scene analysts? It is a quicker way to get a possible identification of a suspect while waiting for the DNA to go through CODIS at an outside lab, which could take months. 

This technique seems to have its pros and cons. Although it is a good preliminary test, what if the suspect is neither ethnicity or a mixture of both (like me)? Also, this has only been tested on blood, but do you think it should automatically work on any type of DNA left behind?

A Biochemical Eyewitness

Cells Eating Part of Themselves as Means for Survival

A recent (well, January) study of the enzyme AMPK concluded that AMPK is not only responsible for regulating cell energy, but it also regulates autophagic enzymes. 

Autophagy is when enzymes within the cell digest other parts of the cell. So, why would the cell want to do this? Autophagy happens when the cell is under pressure of dying and needs nutrients to survive. The autophagous enzymes will find components within the cell that can be degraded and digested to help the cell survive longer. These enzymes are also responsible for clearing out dead components of the cell to make room for the replacement components. 

What autophagic enzymes does AMPK regulate, you ask? There is a class of kinase called "Vps34" that has certain complexes controlled by AMPK. These specific complexes are what carries out autophagy in the cell.

What happens to cells that do not carry out autophagy? Possible cell damage can happen, along with disease, cancer, and aging quicker.

Here's the link in Science Daily:
How cells know when it's time to eat themselves