No two people are alike, due to the different ways our genetics (DNA -Deoxyribonucleic Acid) forms. Sometimes genetic differences can lead to rare and extreme changes that can make life for people difficult. Historically, people suffering from these gene mutations have often been labeled as “monsters” and not accepted into most parts of society — but today, with scientific knowledge humans understand what causes genetic changes and perhaps one day cures for these life affecting mutations will be achieved. Let’s take a look at five of the more extreme forms of DNA mutations. 1) PROGERIA - a genetic disorder that causes accelerated aging in the human body, body systems, and organs. Most children who have progeria die of age-related diseases around the age of 13, but some can live into their 20s. Death is typically caused by a heart attack or stroke (an interruption of blood flow to the brain) from an organ that ages five times faster than normal. This mutation affects as few as one in eight million people. Other symptoms of progeria include rigid skin, full body baldness (alopecia), bone abnormalities, and growth impairment. There is no cure but scientists know that the mutation occurs in the LMNA section of human DNA.2) UNER TAN SYNDROME - a rare genetic condition that causes people to walk on all fours (quarupedal locomotion, hands and feet). This genetic mutation possibly causes a backward stage in human evolution (regression from walking on two legs). UTS was made most famous by biologists studying five members of the Ulas family in rural Turkey. These individuals suffer from UTS and also suffer from genetic mutations to the brain. The family was featured in a 2006 documentary called, "The Family That Walks On All Fours." 3) HYPERTRICHOSIS - also called “Werewolf Syndrome” or Ambras Syndrome affects as few as one in a billion people; only 50 cases have been documented worldwide. People with hypertrichosis have excessive hair on the shoulders, face, and ears. Genetic studies by scientists have identified this as a DNA mutation on Human Chromosome 8. This mutation happens to hair follicles and causes repeated growth on the skin from the eyebrows down to the toes. Most human body parts ignore the messages to grow this excessive hair but the face often is the area that is struck by the most extreme hair covering.4) PROTEUS SYNDROME - a genetic disease that likely afflicted Joseph Merrick (aka “The Elephant Man”). This genetic mutation causes bones, skin, and other tissues to overgrow. Individuals typically have organs and tissues that grow out of proportion with the rest of their body. This mutation can result in strange and imbalanced features on the skull and body. Signs of the disorder don’t usually appear until about 6 to 18 months after birth. The severity of Proteus Syndrome varies from individual to individual, and it occurs in less than one in one million people. Worldwide there have only been a few hundred documented cases. The genetic disorder results from a mutation in the AKT1 gene (this gene controls cell growth in the human body).
5) MARFAN SYNDROME - a mutation of the connective tissues of the human body that causes bones to not fully connect in the skeletal system. Marfan Syndrome appears in about one in every 20,000 births. Nearsightedness (myopia), is a common form of the disease. People with Marfan Syndrome tend to have long and thin arms, long and thin legs, overgrown ribs can cause the chest bone to bend inward or push outward, curves in the vertebrae (backbone) is also a common problem with people who suffer from the DNA mutation. Some historians reported that President Lincoln suffered from Marfan Syndrome but this has since been disproven. Some famous people who have Marfan Syndrome include Bradford Cox from the band Atlas Sound as well as Javier Botet, the actor who scared movie audiences as the frightening bendy ghost in the movie Mama.
1) Review the article and identify 9 science terms that start with each of the letters below.
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A - _
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2) What are the primary two causes of death in people who suffer from Progeria?
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3) What is the scientific term for “full body baldness”? _
4) In what country does a documented family suffering from UTS live_
5) What part of human DNA does “Werewolf Syndrome” affect_
6) What medical name has been given to “Werewolf Syndrome”_
7) Explain two facts about Proteus Syndrome.
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Fact 2 - _
8) What are two signs that a person may be suffering from Marfan Syndrome?
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