Understanding Norrie Disease: I wrote this next part to see if I could explore some of the rare diseases that make people blind, deaf, developmentaly-disabled, etc that are among many other rare diseases affecting mainly biological males, so this is just one of such that I plan to write about.
First of all, Norrie Disease is a rare genetic defect, but what actually causes it, and how is it present? What treatment and cures are currently being worked on? You will get to know how this disease works once you have an understanding of how genes work.
What are genes? Genes are a set of instructions, composed of DNA and RNA sequences, sort of like the strip of a magnetic strip on bank cards used by computers to access a specific set of impulses. Better yet, a gene is like a set of blueprints to building a house. It provides detailed instructions on what the body should produce, when to produce and develop, how to produce, etc. That is why we have mitosis, and our body replaces itself every seven or ten years. Scientists have begun to understand the aspects involved in eugenics, which is isolating one good trait over bad ones. It’s much like a form of human domestication by telling smart people to mate, so that the number of stupid people would gradually reduce. Traits are characteristics based on several kinds of genes. There are physical traits such as build, complexion, hair and eye colour, body fat storage, bone structures, melanim production, hormone and neurotransmitor production, and many, many more. There are also traits devoted to the brain, called mental (left hemisphere) and emotional )right hemisphere) traits. This includes things like how many hormones you are making, how many neurotransmitors you have present, among others, as well as the aforementioned physical traits. Note that these traits can be modified to some extent during an adult’s life, but others might require nerve stimulation or new cell receptors and muscles (to activate tongue-rolling), which may be absent if the genes for these are not present. These things are what determines a person’s outlook in life, such as being smart or dumb, and the list goes on.
What happens in Norrie Disease? Typically, this gene is linked to the X chromosomes, which is why males are definitely going to have it more than females, since the extra X chromosome would compensate for it, unless both X chromosomes were affected, or if they happened to have a Y, which is also rare. The gene’s origin begins with a mutation, such as a virus or infection, or something else entirely, such as neurotoxins, though viruses and bacteria are the basis for gene therapy. When Norrie Disease is present, it begins the process by damaging cells of varying types in the eyes that are already developing, and nerve cells in the ears, and in some cases, the brain is affected. This is why many patients are born without knowing what it is like to see. Depending on the severity of the gene, birth order, and gene expression, some cells, especially those in the cochlea, may be fully developed, but if the proper protein does not give them sustenance, they would eventually die out.
How was Norrie discovered? An ophthalmologist from Denmark started studying seven different people from the same family, and each of these people were male and were past descendants from the first generation. The disease was named after another famous ophthalmologist named Gordon Norrie, who was recognised for his great achievement in working with the blind during the mid to late nineteenth century and into the twentieth.
Causes and Effects of the Gene: Norrie is caused by several mutations found in genes called NDP, located in Xp11.4, and its ID number is 4693). Causes of mutation vary greatly. For future reference, all genes are either binary or somewhere in between, meaning the gene is dominant or recessive, but rarely switch depending on expression and epigenetics. This means you could carry the genetic coding, you could be mutated with this gene, or both. To illustrate this example, use a Punnett Square that can show you which are dominant and which are recessive. Capital letters indicate positive and lower-case letters indicate negative. In a Punnett Square, there are four letters, sometimes distributed equally, sometimes distributed based on chromosomes, and sometimes distributed by a mix of all of these. In order to understand this concept further, you must know what a phenotype, genotype, hybrid, purebred, pedigree, and family tree is. Better yet, take a genetics-101 course for a non-technical explanation on these terms and their etymologies. It helps if you understand the root and stem words of each term, for these are how they have been coined.
Please note: A mutation is when a given sequence or set of instructions is left unfinished (truncated). Take this string of letters, don’t worry about what they mean just yet. A turns into T, T into A, G into C, and C into G. In the second stage, A turns into U, T into A, and C G remain the same. U becomes A, and T becomes A. A very common mutation is TAG, which is usually found at the beginning of a sequence. In genetics terminology, we call this transcription and translation. We say transcription because the gene is being converted from DNA to RNA. Once that’s done, it needs to be translated to form a protein. In other words, mutations finish their job prematurely, leaving the cells affected. This is why people can be mutated to eating certain proteins from products that have them as well as how things are digested like gluten. We will discuss these later on.
What happens when Norrie is present and the gene is mutated? To understand this concept, you must understand how proteins work. We all know that meats and eggs have proteins. In fact, anything that can walk, run, swim and fly has protein. Proteins is what DNA and RNA are composed of. DNA stands for desoxirribonucleicacid, and RNA, ribonucleic acid, is what people use to match characteristics, such as determining which person was responsible in a crime. All of these proteins have a three-dimensional shape, and can be demonstrated using molecular models and high-powered microscope slides once cells have been coloured with dye, suspended in division and expanded using osmosis. The shape of a DNA is like a spiraling latter with its backbones curving to form a double-helix. The rums of the latters contain four distinct articles (base pairs) one set on every rum. This DNA can be found anywhere throughout the body, such as skin, hair, nails, blood, and other body fluids.
In Norrie Disease, the mutated gene called NDP, instructs a protein called norrin how to set its foundation. Norrin is responsible for the development and sustenance of the structures that make up the retinas, cochlear hair cells, etc. As you know, norrin consists of several amino acids that give it its shape. When the NDP gene is mutated, however, this protein doesn’t form properly and becomes mis-folded, giving it an unusual shape. Think about a lopsided house or something of that nature. When this happens, the protein is unable to function, and therefore the back end of the eyes are unable to develop properly.
Other things Norrie Disease can affect include hearing, balance, excretion problems, and mental and or emotional development disorders. It is believed that norrin is responsible for supplying blood flow to the retinas and tissues of the inner ear. There are immature cells forming in the back of the eye, which causes degeneration of important cells and blood vessels. Norrin abnormalities can also affect which parts of the brain are developed, such as neurosteroids and neurotransmitors. However, it should be taken into account that individuals with prelingual deafness do not develop speech and language skills, and for this -reason many blame mental disorders when in fact that is not the case. For example, my older brother, who was the first born, did not have any chance to develop speech and language, so his primary means of communication is through his behaviour.
Severity of the disease is variant on how many amino acids have been mutated and their location or expression. Few mutations ensures that the person will not be as affected than if a person had widespread complications. It has been documented that males with Norrie disease have behavioural problems, but at this time there are too many biological factors to determine the causes of such findings.
Futuristic Outlook and Testing: As of 2014, little research has been conducted to find better methods of testing the molecular structure and mutation of the genes, and although they are accurate, as far as we know no attempt was made to replace the mutated gene with a healthy one to see if the rewritten gene would correct the protein’s structure. If the protein structure were to be corrected, would the eye structures start developing again, or would we need to turn our attention to finding the right growth factors to grow epidermal stem cells the way birds can? Studies have shown that prolonged exposure to how we interact with our environment based on how we socialise and how we identify with our culture gets written into our genetic coding, but there are some genes, such as the NDP that cannot be rewritten once it has been mutated. Current research shows that once a gene has been modified in an organism, that organism usually develops negative side effects, cancer being one of them. We still don’t yet know why this is. Research to sensory substitution and augmentation for people blind at birth still continues, despite the controversy found in the blind community. This may be relevant to how cochlear implants are being contradicted in the deaf culture, which is symbolised by a stab in the neck in American Sign Language. It is hoped that a creation of a new virus or bacterium could reverse the gene’s mutation without leaving harmful side effects in the future. If we work on funding basic research rather than solely focusing on one specific disease, then we can build on that basic research to cure all diseases.
For further information about Norrie, Go to: http://www.norriedisease.org/
Lastly, why do people not use anaesthetics like nitrous oxide when undergoing cosmetic enhancements, like piercings and tattooing? I don’t see any reason they should, so why shouldn’t they? According to Bill Nye’s the History of Anatomy and PHysiology, many people believed that pain should be tolerated, especially for cosmetic purposes as a symbol of having to suffer to get what you want. If all pain was relieved, people would almost never learn what their limits were. It is hoped that regrowing tissue with stem cells and right growth factors can replace plastic surgery.