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20 Weird Human Genetic Mutations


Human kind has a lot to thank to genetic mutations, since evolution is guaranteed by them. However, acute mutations lead to severe malformations in human body, i.e. severe diseases and syndromes, which sometimes result with weird, embarrassing, painful and even life-threatening symptoms.

A number of discovered gene-related diseases grows by the day, and despite the fact that significant steps are being made toward finding cures for some of them, improvement is still slow-paced and usually health risk-related.

Previous gene doctrines, developed by world famous doctors Watson and Crick, are lately being outgrown, bringing some new ideas and knowledge to the science round tables, where more questions are being raised than answers being given.

Some theories claim that genome, once believed to be unchangeable, is actually a very active map of gene sequences, and mutations are occurring in our bodies as you read this, but at a insignificantly small scale. Aging, for example, is nothing but a consequence of constant and small-scale mistakes in cell DNA multiplication.

Genome is a very complicated gene system, which controls literally everything in our body. According to some new theories around 2 million of human bodily characteristics are being controlled by the genome, or gene sequences and even a very small mistake in this very precisely ordered map can lead to extremely severe bodily malfunctions.

We bring you some really weird among them.

1. Progeria

Among weird human genetic mutations, progeria is a really weird one. Although there aren’t many of those suffering from this rare and vicious genetic disease, it is quite known. Approximately, every fourth-million person suffers from it. Mainly, progeria is a form of premature physical aging shown in early childhood years.

There are few forms of this disease, but the most severe is Hutchinson-Gilford progeria syndrome, which was recognized and described by Dr. Jonathan Hutchinson in 1886. Dr. Hastings Gilford did the same in 1904.

Progeria sufferers don’t show signs of this disease immediately after birth, but in first year of life, and later on. They start to grow at slower pace than normal, and they don’t grow accordingly and have trouble putting weight on. Their intelligence remains untouched, and they develop normally in area of mental functions, but their appearance gives the disease away – they lose hair, skin looks older, and small face is topped with a, usually, unusually pinched nose and smaller-than-normal jaw.

Apart from distinctive physical appearance, these old youngsters develop some diseases, which are common for elder population, such as: stiffness of joints, hip dislocations and severe, progressive cardiovascular diseases.

Many symptoms complicate and lead to serious surgery and usually these kids live up to 13 years, but some of them are today alive and relatively well at the age of 17.

In 2003, group of researchers discovered that a very small point mutation in a single gene, called lamin A (LMNA) is the main cause for this disease. Strange, but true, only one mistake in 25,000 DNA base pairs of LMNA gene leads to this dreadful disease. Mutations in LMNA genes are, interestingly, cause to at least 6 other genetic disorders, including few rare forms of muscular dystrophy. Quest for cure for this disease can lead to many interesting discoveries regarding aging in general.

The weirdest thing about this disease is the fact that progeria sufferers mentally develop just like any other kid, and the last thing one teenager needs is the awareness that he/she is physically older than his/her actual age, and the imminence of premature death. However, many of progeria sufferers are among the happier people on planet Earth, and some them are motivational speakers and even writers.

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