Three Genetic Mutations that Make People “Superheros”

Some parents give birth to children who have “superpowers”, thanks to genetic mutations. From super-sleeper mutation to the inability to feel pain, here are three genetic mutations that make some people “superheros”.

hDEC2 : the super-sleeper mutation

Normally, people need to sleep around eight hours each day. However, individuals with the hDEC2 gene feel energized on just about four hours of sleep every day. Such people are known as “short-sleepers and scientists have been working to examine exactly what predisposes individuals to require just 4 hours of sleep.

LRP5: the unbreakable bone mutation

Due to a genetic mutation known as sclerosteosis, some people are born with bones that are many times denser than the average human. People who have “unbreakable” bone mutation normally survive car accidents.

Congenital analgesia: the inability to feel pain

Imagine pricking yourself with a needle or putting your hand on burning stove without feeling any pain whatsoever. There are individuals who have a rare genetic mutation that enable them to do that, a condition referred to as congenital analgesia. Although this is an awesome “superpower” to have, it is extremely dangerous because some people with the condition could have serious injuries but have no idea.


The Genetics of Human Height

Human height is a quantitative trait or characteristic that is measured in quantity. It is determined largely by two major factors: genetic factors and environmental factors. Environmental factors entail nutrition, climate, habits, and lifestyle.

Several scholarly works have estimated the hereditability of human height. The estimation is done by assessing the degree of resemblance between relatives. Moreover, it is also important to note that different ethnic populations have different genetic backgrounds and live in different localities. Therefore, height hereditability tends to vary from one population to another.

Many genetic variants are linked to height. However, there is no genetic variant that appears to have very strong effects. Recently, scientists that took part in the International Genetic Investigation of Anthropometric Traits (GIANT) Consortium identified 83 new DNA changes that can have strong effects on height, affecting the stature of a person. To identify the 83 new variants, the researchers examined over 700,000 volunteers. Out of the 83 variants, 24 were found to affect height by over 1 cm.

Joel Hirschhorn, a geneticist at Boston Children’s Hospital and the Broad Institute, has previously stated that there are approximately 700 that affect height. According to some geneticists such as David Goldstein of Columbia University, height is very complex, and every gene in the genome may ultimately be associated with the trait.


Oral Cleft and Genetics

Cleft lip is a complex congenital anomaly that can be either in isolation or seen together with other malformations. It can occur with or without cleft palate. It occurs during the embryonic stage of development. Cleft lip is caused by the failure of maxillary prominence and medial nasal prominence to fuse. This fusion is supposed to happen between the fifth and sixth week of embryonic development.

Normally, the palate develops after the primary palate has been formed between the sixth and seventh week, followed by the formation of the secondary palate at the ninth week of embryonic development. The secondary palate forms the hard and soft palates. Oral clefts have been identified as a common birth defect and it is more common in males.

The oral cleft can either be isolated or due to a genetic syndrome. Isolated clefts are those that occur where there have not been any other clinical findings present. They are due to a combination of a number of factors including genetic and environmental factors. Research shows that approximately 80% of the clefts are isolated.

Prenatal exposure to teratogenic agents like thalidomide, cigarettes, alcohol, anticonvulsants and retinoic acid, maternal diseases like diabetes and rubella and the presence of amniotic bands increase chances of developing oral clefts. The genetic syndromes include Pierre Robin sequence, cytogenic abnormalities like aneuploidies and microdeletions and single-gene disorders like Mendelian.

The chances of an embryo developing an oral cleft can be determined by a thorough medical history, pregnancy history and a dysmorphology exam by a clinical geneticist. It is important for one to undergo this genetic evaluation.

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The Role of Genes in Development of Cancer

The body of a human being is made up of various cells. Each cell contains DNA; which in turn contains various genes. A cell can have up to 30,000 different genes. These genes are responsible for controlling how cell functions, its growth, how long it lives, and how often it divides.

In order to control the functioning of the cells, genes make proteins. These proteins have specific functions. They also act as messengers for the cell. For the protein to perform the correct function, the gene must have the correct instruction for making the protein itself.

The genesis of cancer is where one or more genes are changed. The changing of the gene structure is known as mutations. Mutation leads to either the creation of an abnormal protein or failure to create any at all. This causes uncontrollable multiplication of cells which become cancerous.

Mutations are common in the human body, but the body is in a position of correcting them. For cancer to occur there must have been quite a number of mutations in the body during the individual’s lifetime. This explains why cancer mostly affects older people.

There are various genes that may be directly associated with the cause of cancer. Among them are:

Tumor suppressor genes; they limit the growth of cells by monitoring how quickly a cell divides. If they are mutated, the cells will end up growing uncontrollably hence becoming cancerous.

DNA repair genes; they are responsible for correcting mistakes made when DNA is copied. If it is mutated, these mistakes cannot be fixed hence leading to the formation of cancerous cells.


Food waste? Food FUEL!

What is Bio-Fuel? 

Bio-fuels are liquid fuels that are derived from materials such as wastes of plants or animals.

Why is Bio-Fuel Essential?

Due to the drastic increase of population, food consumption increased, gradually forming bounty of food wastes.

Food waste is being produced excessively and is increasing rapidly due to the immense population growth. Despite all the efforts to reduce the rate of production, it is visually proven that this acceleration is inexorable. As researchers realized this fact, they studied ways to focus on the potential possible solutions that can be advantageous than to dissipate inessential effort.

This alteration of perspective engendered a huge technological advancement. Researchers formulated a method to convert organic waste into useful energy source. Briefly explaining the procedure, the discarded organic waste are reduced in size and fermented. In this process, the solid precipitation are grinded into nutritious fertilizer, and the gas produced are utilized to turn the gas motor, affecting the generator to produce electricity.

Categorizing the benefits of food wastes to Bio- Fuels

  1. Can reduce carbon emission: Environmental Benefit.

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Fossil fuel, one of the commonly used fuels is the cause of massive production of carbon dioxide, engendering green house effect, increasing the temperature more than  0.6 Celsius since the year 2000.(When 1 C increases, half of the population of forests of alpine region disappears,  and the largest coral reef region, Great Barrier Reef will never regain its original shape caused by bleaching. )

Bio-Fuels can reduce carbon emission by 85% compared to mineral diesel including fossil fuels

With the help of bio-fuels, huge amount of Co2 can be reduced, preventing the potential environmental difficulties.

2. Can increase energy production: Economic Benefit

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The world lacks energy. According to US Energy Information Administration(EIA), total energy consumption per year came up to 493 quadrillion (493,000,000,000,000,000).

The world craves for energy. Oil, coal, gas, nuclear energy are the most used energy source in human history: but the global denizen begs for more. Realizing the urgency of the matter, researchers are trying to find an alternative energy source that can be efficient and environmentally harmless. The alternative energy sources brought up till now, has number of flaws that cannot be ignored.

Bio-fuels, on the other hand, are made up of “pure” rubbish. The only requirements are the facilities and professionals of the area.

The whole concept of food wastes being reproduced as crucial energy resource is revolutionary: trash to energy.



3. Can lower space requirements for landfills: Social Benefit

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The most popular way to discard food wastes are to pludge them in landfills. This causes environmental, spatial, and social problems. Perilous leachate, land consumption in hectares, and NIMBY(Not In My Back Yard) phenomenon often lacerates relationship between neighbors. Landfills emits unbearable odors and contaminates the land surrounding that area, giving huge disadvantages to the residents inhabiting the region.

However, in the process of creating bio-fuels, the stenches are collected and purified, leaving no scent of reek behind. Also, the wastes are collected in a artificially created room to prevent the leachate from leaking.

 The benefits of recycling food waste are clear, increased energy production, lower carbon emissions, lower space requirements for landfills, and lot more.

People should not view food wastes as squalid rubbish,

But as Necessary Source of Energy.



Four Genes that Program the Shape of Human Nose

It is well known that we get most of our external characteristics from our parents. The shape of your nose is one of the traits that were passed to you from your parent. But which genes mainly determine the shape of your nose was poorly understood until last year.

Last year, scientists pinpointed the genes that affect the shape of the nose and reported their findings in the journals Nature Communications. The researchers examined 6,000 people from Latin America of different ancestry (50 percent European, 45 percent America, and 5 percent African). Nearly 3,000 people got their faces scanned to determine exact facial proportions. In the end, the researchers looked at 14 different facial features. The features were then compared with full individuals’ genome to find any responsible gene.

The team discovered four genes that determine how human noses are shapedparticularly, the “pointiness and width. A gene known as GLI3 strongly affects the width of the nostril. The PAX1 gene also affects nostril width, but to a lesser extent. The gene DCH2 was shown to affect nasal pointiness, resulting in a “button nose.” The cartilage growth is controlled by the three genes. RUNX2, the fourth gene, controls bone growth and the width of the nose bridge.


Difference Between Chromosome Mutation and Gene Mutation

Mutations are alterations that occur in organisms’ genetic material, and they take place due to various reasons. Chromosome mutations and gene mutations are two types of mutations and they vary from each other mostly in the magnitude of the modification.

Chromosome mutation is a significant alteration of an organism’s chromosomes, where either the structure or number of chromosomes is altered. There are three types of chromosomal mutations which include inversions, deletions, and duplications. All chromosomal mutations affect the number, and the structure of chromosomes and eventual syntheses of protein and gene expressions.

Gene mutations are alterations of an organism’s genetic material, which mainly is an alteration in the sequence of nucleotide in a particular gene. There are two main types of gene mutations: frame shift mutations and point mutations. Gene mutation may result in alteration of the structure or the number of the whole chromosome, which could eventually cause chromosomal mutations.

Chromosomal mutation is an alteration in many genes whereas gene mutations are an alteration in the nucleotide sequence. Also, chromosome mutation is a serious alteration while Gene mutation is considered as a small-scale alteration. Finally, chromosomal mutations are hard to correct while gene mutations are sometimes easily corrected.