Cell discovery could hold key to causes of inherited diseases
Fresh insights into the protective seal that surrounds the DNA of our cells could help develop treatments for inherited muscle, brain, bone and skin disorders.
Researchers have discovered that the proteins within this coating – known as the nuclear envelope – vary greatly between cells in different organs of the body.
This variation means that certain disease causing proteins will interact with the proteins in the protective seal to cause illness in some organs, but not others.
Until now scientists had thought that all proteins within the nuclear envelope were the same in every type of organ.
In particular the finding may provide insights into a rare muscle disease, Emery-Dreifuss muscular dystrophy.
This condition causes muscle wastage and heart problems, affects only muscles, even though it is caused by a defect in a nuclear envelope protein found in every cell in the body.
Scientists say that the envelope proteins they have identified as being specific to muscle may interact with the defective nuclear envelope protein that causes Emery-Dreifuss muscular dystrophy, to give rise to the disease.
In a similar way, this may help to explain other heritable diseases that only affect certain parts of the body despite the defective proteins being present in every cell. The study also identified nuclear envelope proteins specific to liver and blood.
Some of these also interact with proteins in all cells that are responsible for other nuclear envelope diseases, ranging from brain and fat to skin diseases, and so may help explain why things go wrong.
Dr Eric Schirmer, of the University of Edinburgh’s Wellcome Trust Centre for Cell Biology, who led the study said: “Nobody could have imagined what we found.
The fact that most proteins in the nuclear envelope would be specific for certain tissue types is a very exciting development. This may finally enable us to understand this ever-growing spectrum of inherited diseases as well as new aspects of tissue-specific gene regulation.”
The findings build on previous research that showed proteins in the nuclear envelope are linked to more than 20 heritable diseases.
The Fregoli delusion or the delusion of doubles is a rare disorder in which a person holds a delusional belief that different people are in fact a single person who changes appearance or is in disguise. The syndrome may be related to a brain lesion, and is often of a paranoid nature with the delusional person believing themselves persecuted by the person they believe is in disguise.
A person with the Fregoli delusion can also inaccurately replicate places, objects, and events. This disorder can be explained by “associative nodes.” The associative nodes serve as a biological link of information about other people with a particular familiar face (to the patient). This means that any face that is similar to a recognizable face to the patient, the patient will recall that face as the person they know.
The Fregoli delusion is classed both as a monothematic delusion, since it only encompasses one delusional topic, and as a delusional misidentification syndrome, a class of delusional beliefs that involves misidentifying people, places, or objects. Like Capgras delusion, psychiatrists believe it is related to a breakdown in normal face perception.
Fregoli syndrome is the belief that people you know have been disguised to appear as strangers.
Signs and symptoms of Fregoli’s:
“How do you know what's real? A new study suggests that people's ability to distinguish between what really happened and what was imagined may be determined by the presence of a fold at the front of the brain that develops late in pregnancy, and is missing entirely in 27% of people. Although the study sounds like it sprouted from the musings of stoned undergraduates or the abstruse pursuits of basic-neuroscience geeks, its findings may prove important for the understanding of schizophrenia, a disorder which often includes confusion between real and imagined voices.”—From the Oct. 5 article “Reality Check: Why Some Brains Can’t Tell Real From Imagined” on Time.com’s Healthland: A Healthy Balance of the Mind, Body and Spirit.
we are all commuters
Widowed, of modest means and in her late 70s, Winnie shocks her family and friends by deciding to marry again. The groom, Jerry, is roughly the same age and also widowed. So far it’s a happy picture. Until we meet Jerry’s family. Apparently the groom has millions in the bank, money he has earned building two companies from the ground up, money his daughter Annette wants to remain in the family. Her worst fears are confirmed when it is revealed that Jerry has bought the town’s famous—albeit dilapidated—mansion for his bride.
Two other couples share the “commute”: Winnie’s daughter Rachel and her husband Bob, and Jerry’s just-out-of-rehab grandson, Avery and his girlfriend, Nona. The reader “commutes” to and from the different couples’ points of view as Tedrowe switches between relationships. Quite a tour de force: writing credibly about couples in their late 20s, mid-40s and late 70s.
Ms Tedrowe’s characters are complicated people. I fell in love with Bob, Winnie’s son in law, who is on disability leave from the law firm where he works: a fall from a ladder inflicted head trauma that would require months of rehab. Rachel is frustrated—and I think envious—that Bob has decided to use these months to write a book. Their finances dwindle until they are forced to move into the self-contained apartment in their house that they used to rent out. And when Rachel turns to Jerry for some help, and by help I mean $$$, the reader begins to sympathizes with Annette.
Jerry’s grandson, Avery, grows so much during the course of the novel. He begins as a selfish, self-absorbed individual estranged from his parents and not terribly connected to his grandfather. As he warms up to Winnie and Jerry, Avery matures, his heart becomes large enough to contain more than his own desires and wants. His girlfriend, Nona, is a talented singer of modern art songs and here Tedrowe does a superb job of describing sounds. Reading about a song can so easily kill the mood. Tedrowe is equally skillful when she dishes up fusion menus through Avery, an avid foodie and budding chef. She knows how to taste with words.
Commuters ends in an untidy, realistic way. Through a neat literary device, we learn that Bob’s book is going to be published under the title “My Commute: Head Trauma, Recovery, and Finding My Way Back”. Rachel doesn’t understand it as her husband doesn’t commute to his job. Winnie offers another meaning of the word: “To change, or exchange. To give one thing in exchange for another.”
The title of this post is taken from a photograph in the story: enthusiastic volunteers fundraising for the renovation of the town’s train station hold a banner proclaiming that “We Are All Commuters!” With Commuters, Ms Tedrowe offers the reader thoughtful and thought-provoking views of change and impermanence, love and loss, learning and growth within the immensely satisfying carbs of a story well told.
8.5 out of 10. A story with substance.
Brain Research And Its Discoveries
The brain is an amazing organ and the most complex part of our bodies. There is much we have learned about our brains but there is much left to study and discover. We will discuss here some selected research findings which have provided us with important information pertaining to how our brains function and operate.
An important area of brain research has focused on the manner in which brain cells and nerve cells transmit information within the brain and central nervous system itself and from all the different parts of our body.
Hemispatial neglect, also called hemiagnosia, hemineglect, unilateral neglect, spatial neglect, unilateral visual inattention,hemi-inattention or neglect syndrome is a neuropsychological condition in which, after damage to one hemisphere of the brain, a deficit in attention to and awareness of one side of space is observed. It is defined by the inability for a person to process and perceive stimuli on one side of the body or environment that is not due to a lack of sensation. Hemispatial neglect is very commonly contralateral to the damaged hemisphere, but instances of ipsilesional neglect (on the same side as the lesion) have been reported.
Hemispatial neglect results most commonly from brain injury to the right cerebral hemisphere, causing visual neglect of the left-hand side of space. Right-sided spatial neglect is rare because there is redundant processing of the right space by both the left and right cerebral hemispheres, whereas in most left-dominant brains the left space is only processed by the right cerebral hemisphere. Although most strikingly affecting visual perception (‘visual neglect’), neglect in other forms of perception can also be found, either alone, or in combination with visual neglect.
So, sometimes I don't really mind studying for this class because I learn amazing things.
Like conduction aphasia.
- Which is the inability to repeat words that are heard BUT the ability to speak normally and comprehend the speech of others.
Basically, if you have this disorder (which can be caused by some kind of trauma to the arcuate fasciculus if you were wondering) you can only repeat words that have meaning.
If I said LOVE the patient would be able to repeat the word properly or give me a word that is related, such as heart, but if I were to make up a word like RILLD the patient would not be able to comprehend the sound and repeat it.
THIS STUFF IS JUST AMAZING TO ME.
Reasons why I love the brain and everything that goes along with it.