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Albinism

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Emma Shoemaker

on 12 September 2016

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Transcript of Albinism

Genetics
Genes
All of these genes are involved with the production of melanin.
Symptoms Of Albinism
Symptoms of Albinism are apparent in a person's skin, hair, and eye color.
How is Albinism Diagnosed?
Different Ways:
Continued...
Hairbulb Pigmentation Test
Albinism
Oculocutaneous Albinism
Type 1- affects the TYR gene (chromosome 11)
Type 2- affects the OCA2 gene (chromosome 15)
Type 3- affects the TYRP1 gene (chromosome 9)
Type 4- affects the SLC45A2 gene (chromosome 5)
Ocular Albinism
One type (X-linked):
affects the GPR143 gene
more common in males
rare in females
What is Albinism?

A genetic disorder that is characterized by little or no melanin production and by the partial or complete absence of pigment in the skin, hair, and eyes. This heredity disease can be found in humans (affecting all races), mammals, birds, fish, reptiles, and amphibians.
Other Symptoms
rapid, involuntary back-and-forth movement of the eyes(nystagmus)
inability of both eyes to stay directed at the same point or to move in unison(strabismus)
Extreme nearsightedness or farsightedness
Sensitivity to light(photophobia)
Abnormal curvature of the front surface of your eye or the lens inside your eye, which causes blurred vision(astigmatism)
- It's useful for specific, isolated populations who carry the trait in them.
Genetic Testing
Eye Examination
Skin:

- An Othopologist should perform complete examination of the eye of a affected person.
Can be pinkish
Ranges from white to brown
Chemical Testing of Hair
Hair:
- A chemical testing of hair can help easily confirm the diagnosis of albinism
Ranges from very white to brown
People of African or Asian descent can have yellow, reddish, or brown hair
Eyes:
Albinism can be diagnosed by observation of lack of pigmentation of the skin, hair, and eyes.
Ranges from very light blue to brown
May be somewhat translucent due to lack of pigmentation
Visionary Problems
These include:
- This is used to identify carriers and is done by watching the length of time a piece of person's hair in a solution of tyrosine.
Tyrosinase Test
- This is more precise than the hairbulb pigmentation test. It measures the rate at which hair converts tyrosine into another chemical.
Blood Test
- Blood test has been developed that can identify carriers of the gene for some types of albinism.
What Tests are Done?
Physical Examination
-Known as a check-up and is a process by which a medical professional investigates the body of a patient for signs of disease.
Description of Changes in Pigmentation
- The skin on a healthy person will appear normal, unless the person has an illness or injury. If so, the person's skin color may change color.
Exam of the Eyes
- The person would do many eye tests such as visual acuity tests that measures the sharpness of your vision.
How is Albinism Treated?
Treatment involves protecting the skin and eyes from the sun:
Reduce sunburn risk by avoiding the sun, using sunscreen and covering body up fully when exposed to the sun.
Sunscreen should have a high sun protection factor (SPF).
Sunglasses (UV protected) may relieve light sensitivity.
Glasses are often prescribed to correct vision problems and eye position.
Medications? Gene Therapy?
There was no potential effective treatment or cure existed for Albinism until late 2011.
Low Vision Aids:
- Young children may simply need glasses, while others may require bifocals.

-Occasionally, biotics are prescripted.
- Tinted glasses maybe used to reduce Photophobia.
Bifocals
Biotics
Normal Glasses
Tinted Lenses
Continued...
Strabismus: Abnormal alignment of the eyes; the condition of having a squint
It is preferred to start eye-patching infants at age six months (Prior to completion of eye development).
Nitisinone: A drug used to slow the effects of heredity tyrosinemia type 1.
-Nitisinone elevates plasma tyrosine levels and increases eye and hair pigmentation.
What parts of the body are affected? How?
Albinism affects the way a person's skin looks. It makes the skin very pale.
The color of your hair is affected by Albinism and makes it white or very light. Over time, it can darken (by adulthood).
The eyes are affected in two different ways. The color of the eyes are very light. They may change with age. It can also affect your vision, making it blurry or causing some of the vision problems pointed out earlier.
Skin:
Hair:
Eyes:
What does the disorder do that leads to the symptoms?
The disorder causes you to produce little or no melanin, which leads to the symptoms. No or little melanin makes the skin very light pigmented. It also makes your hair color and eyes very light. The lack of melanin in the retina affects your vision. Melanin is made by amino acid tyrosines.
What happens in the body to cause this disorder?
What causes Albinism? A mutation? Having an extra chromosome?
Sources:
www.nytimes.com

emedicine.medscape.com

www.visionfortomorrow.org

www.mayoclinic.org

http://ghr.nlm.nih.gov/BrowseConditions

www.Albinism.org

www.encyclopedia.com
Your body produces little or none of the pigment melanin. Your hair, skin, and eye color is determined by the amount of melanin you produce. The lack of melanin gives you a light complexion.
Albinism is caused by a mutation in your genes. The same mutated gene does not cause all types of albinism. Different genes affect different types of albinism.
Oculocutaneous Albinism
A group of conditions that affect the coloring of the skin, hair and eyes. It affects 1 in 20,000 people. There are 4 different types of oculocutaneous albinism.
Albinism is:
recessive
most types are autosomal
Two main types are:
Oculocutaneous Albinism (OCA)
Ocular Albinism (OA)
X-linked Ocular Albinism
Hermansky-Pudlak Syndrome
Chediak-Higashi Syndrome

Some albinos have no changes to any of these specific genes, the cause is unknown.
Several additional types have been proposed, but only affect one or a few families.
1 in 20,000 people are Oculocutaneous albino.
1 in 75 people are carriers of albinism
Statistics
Pedigree for albinism:
Albinism can skip generations within families
Who is affected?
Type 1- most common type among all albinos.
Type 2- African Americans, Native Americans, and sub-Saharan Africans.
Type 3- Southern Africans
Type 4- Japanese and Koreans.
2 cool 4 school
Alterations
OCA1
- the TYR gene affects the
tyrosinase enzymes
Variations (autosomal):
#9
#5
X
#11
TYR gene
OCA2
- the OCA2 gene affects the
"P" protein
, located in melanocytes
OCA3
- the TYRP1 gene affects the
tyrosinase-related protein 1
(enzyme in melanocytes)
OCA4
- the SLC45A2 gene affects a
transport protein
that mediates melanin synthesis
More Types
Ocular Albinism:
Hermansky-Pudlak Syndrome:
Chediak-Higashi Syndrome:
Griscelli Syndrome:
the GPR143 gene affects a protein in the retina that plays a signaling role important in eye pigmentation
Why is it a genetic disorder?
Albinism is a genetic order because it is inherited and is caused by an abnormality in your genes (DNA).
Type 1- white hair, very pale skin, and light-colored irises
Type 2- less severe than type 1
Type 3- Usually affects dark-skinned people

Type 4- signs and symptoms similar to those with type 2
This type of Albinism primarily affects the eyes. There is reduced pigmentation in the iris and the retina, which affects your vision. It does not significantly affect the color of your skin and hair. It is inherited through the X chromosome.
Albino Hunting
Albino History
Hermansky-Pudlak syndrome is a type of Albinism characterized by oculocutaneous albinism. They also have problems with blood clotting. It affects 1 in 500,000 to 1,000,000.
What
Who
Where
Why
Characterized by Oculocutaneous Albinism. It affects the immune system by damaging immune system cells, leaving them less able to fight off viruses and bacteria. It is very rare. There have only been 200 cases reported worldwide!
Albinos being attacked, having limbs cut off, or murdered
Albinos being put behind fences for protection against people who want their limbs
Albinos are discriminated and limited in society
Albinos are killed or have limbs cut off
Some witch doctors make potions out of their bodies
Society discriminates against them and insults them
Tanzania is a location of much unrest due to the murders of albinos
African countries and cultures look upon albinos as bad omens or spirits/ghosts
Albino bodies used in potions, cures, and charms for good luck or "magical powers"
Albino limbs are very expensive as well, leading people to kill for wealth
the HPS1 gene affects a protein used in the making of lysosome-related organelles that are involved in the production and distribution of melanin
the LYST gene affects a protein used to regulate lysosomal transport
the MYO5A gene affects a protein in melanocytes
Recall from Unit 2 that enzymes are used to catalyze chemical reactions, which in this case, is melanin synthesis
Recall from Unit 3 that ribosomes are organelles in cells that are responsible for the production of proteins (which made of amino acids). Most of the genetic mutations involve a mishap with a protein, such as the tyrosinase enzyme.
By: Emma, Sydney, and Rachel
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