Are you a 'night owl'? You may have this genetic mutation

This article is about how a single point mutation in the DNA sequence can have an effect on your sleeping patterns. More specifically, your circadian rhythm. The gene with the mutation is CRY1 and this affects the suppressors of the individuals circadian rhythm. This can extend their cycle by at least a half an hour, which can lead to a state of " perpetual jet lag". This isn't an impossible thing to get past though, just requires a stricter sleeping schedule.

My opinion is that this is interesting to learn about, mainly because I am one of these people. On the positive side, it is easier to get past the difficulties if there is enough motivation to get up, like getting something to eat.

Medical News Today

Circadian Rhythm 

A Single Mutation May Have Sparked Multicellular Life

An important change in our ancestor’s DNA occurred millions of years ago. Life consisted of unicellular organisms a long time ago, and million cells arose from the fusion of two, ten and many cells. As a result, different types of cells led to the rise of organisms, which laid the path for the formation of tissues, organs and ultimately life. Researchers from the Oregon university believed that a single mutation directed in the transition from single-celled organisms to multi cellular organisms when they traced back the steps of evolution through phylogenetic tree. During mitosis, two daughter cells produced within the tissue are placed in proper orientation. Mitotic spindles align daughter cells with protein markers on the cell wall.  Cancer is the result of improper orientation of spindles and malformed tissue. The origin of multi cellular life can be pinpointed if researchers would discover the ancient protein structures that has the ability to position spindles.

Choanoflagellates are the closest unicellular relatives to animals and because they are unicellular, they organize into colony to feed on food. Multiple cells perform a single task as how the organs function. As a result, the need for the genetic change emerged along the way that allow single cells to identify each other and come together. Researchers need to do molecular time travelling to trace this watershed moment. Ancestral protein reconstruction technique combines gene sequencing with computer algorithms to duke into millions of years in the past. Researchers were able to distinguish when mutations took place in more than 40 organisms by working through a chain. The technique allowed them to create cells with the same DNA. They identified a single mutation that changed the way certain proteins function with the help of resurrected cells.

 The altered proteins(enzymes) became an interaction domain which can communicate and link to other proteins. This crucial protein today is present in all animal genomes and is put to work when a cell divides every time. This mutation is a small change that intensely changed the protein’s function, thus allowing it to do an entirely different task. According to Ken Prehoda, “animals really like these proteins because there are now over 70 of them inside of us.” The findings of team could lead to innovative insights about cancer and additional diseases. Cancer cells, lone wolves, misbehave and stop to communicate with body cells. By considering how cells communicate could help us understand why they stop. A small change can sometimes have huge consequences.

I found this article interesting because it discusses how the single mutation led to the origin of multi-cellular organisms from unicellular. The ancient protein structures allowed the multi-cellular organisms to arise by tracing back to the phylogenetic tree. The mutation altered the protein’s structure, and as a result can provide insights about cancer disease in which the cancerous cells do not communicate with body cells, and they arise because of improper spindle orientation during mitosis. The ancient proteins are the source of communication and linkage to other proteins. Cancer can be curable if we are able to identify how cells communicate.

http://blogs.discovermagazine.com/d-brief/2016/01/12/a-single-mutation-may-have-sparked-multicellular-life/#.V_E10PkrLIW

http://www.futurity.org/mutation-multicellular-life-1088352-2/

The Case of the Girl Who Couldn’t Feel Pain

        A recent article unveils that reduced pain perception might actually be the result of a single gene mutation. Typically, such drastic medical complications are the result of the interactions and mutations of multiple genes. In this new study, an anonymous woman, “Index Subject 1,” was studied by an entire team of scientists because of her unusual condition: she has the inability to feel pain. Her condition is a dangerous one; she has suffered severe injuries, all of which healed slowly because she was unable to detect that she was hurt. 
Researchers targeted the woman’s mutation not only by studying the genomes of both of the woman’s parents, but also by comparing her family’s genes to several human databases. These databases include the genes of 1,092 people from 14 different populations. In each case, the researchers located a single gene mutation that was displayed in Index Subject 1, but not in a
ny other genome that they studied; the gene called SCN11A was affected by the mutation and caused the woman to not feel pain. The SCN11A gene produces a protein that controls the amount of sodium that passes through cells in the human body; nerves utilize many of these sodium channels in order to indicate to the rest of the body a message of pain. In the case of Index Subject 1, the mutation specifically affected a sodium channel that is abundant in nociceptors, the particular nerves that sense pain. 
After researchers identified that Index Subject 1 has a mutation affecting the SCN11A gene, they then studied the genetic composition of 58 other individuals who had reduced pain perception. Another individual, a man they named Index Subject 2, was identified as having the same mutation as Index Subject 1. Researchers went even further to test whether the mutation affecting the SCN11A gene really did cause a dramatic reduction in pain perception. Scientists found that of the 101 lab mice that were given the SCN11A mutation, 11 gave themselves self-inflicted wounds. Mutated mice were able to withstand high temperatures, and they did not protect a swollen paw as a normal mouse would. 
       I chose to post this article not only because it reports a super-rare genetic mutation, but also because it suggests a medical revolution. The studied mutation could be used as a model for pharmaceutical companies to create future painkillers. The impact that this genetic mutation could have on the medical and pharmaceutical communities will come at a relief for individuals who suffer from chronic pain. I believe that this study will have a significant impact on the way that individuals are treated for their pain. Rather than taking multiple pain medications to treat pain, it is possible to create one medication that affects the SCN11A gene, thus diminishing the individual’s pain. 

Reduce pain through meditation!
http://www.youtube.com/watch?v=tnABHy6tjL8