I Was Wondering About…{Albinisim}

A random encounter in the park sparked my curiosity for individuals with snow white hair and skin.

A few weeks ago, I bumped into two young ladies with albinism at the Royal Park and the first thought I had was “They’re so beautiful!”. I’m not sure when my first encounter with an albino occurred, but I’ve always been fascinated by them. That said, I never find out more about the condition.

But not this time.

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Source: Dailymail.com.uk

What is albinism and what causes it?

Albinism is an inherited condition caused by genetic mutations. Those with albinism possess a mutated gene that produce little to none of the pigment (melanin) that gives human skin, hair and eyes their color. For this reason, albinos tend to have light blue eyes, white hair and light skin. Since melanin is also crucial for the development of optic nerve, most albinos have to live with vision problems throughout their lives.

Now, you may have the perception that all albinos share the same symptoms. But that’s not the case. Albinism occurs on a spectrum and the condition can be mild or severe depending on which genes are mutated.


 

What are the types of albinism?

The two common types of albinism are oculocutaneous albinism (OCA) and ocular albinism (OA). While the former affects the eyes, hair and skin, the latter affects mainly the eyes. That’s why it’s common to see individuals with OA to have similar or slightly lighter hair and skin color compared to other family members.

OCA is inherited in an autosomal recessive manner. This means each unaffected parent (also known as carriers) carries one functional and one non-functional copy of the causative gene. If the couple decides to have a child, there’ll be a 25% chance that the child will be born with albinism, a 50% chance for it to be an unaffected carrier (just like the parents) and a 25% chance of being unaffected nor a carrier.

Below are four sub-types of OCA:

OCA1 – Caused by a defect in the tyrosinase enzyme. The two sub-types of OCA1 are OCA1a and OCA1b.

OCA2 – Most commonly found in Sub-Saharan Africans, African Americans and Native Americans.

OCA3 – Caused by a defect in the TYRP1 gene and those affected usually have reddish-brown skin, reddish hair and hazel or brown eyes.

OCA4 – Commonly found in East Asian descents.

 

For more details, click here.

Unlike OCA, ocular albinism is inherited in an X-linked manner. This is because the mutated gene that causes OA is located on the X chromosome. Males are more likely than females to get OA because they only have one copy of X chromosome in their sex gene. Females with one copy of the mutated gene typically don’t experience vision loss or eye abnormalities. However, they may still experience mild changes in retinal pigmentation.

According to Vision Australia, the common visual defect in OCA and OA include muscular hypoplasia (abnormality in the retina causing decreased clarity of central vision), Nystagmus (rhythmical involuntary to and fro movement of the eyes), photophobia (intolerance to bright light), refractive errors and Strabismus (turned eye).


Rare forms of albinism

  1. Hermansky-Pudlak Syndrome (HPS): Has symptoms similar to OCA and those affected also have bowel and bleeding disorders.
  2. Chediak-Higashi Syndrome (CHS): Causes a defect in the LYST gene, which produces a protein called lysosomal trafficking regulator. Since lysosomes use digestive enzymes to break down toxic substances, prevent infections and recycle old cell components, individual with CHS are highly prone to infections.
  3. Griscelli Syndrome (GS): The rarest case of albinism (there have only been 60 known cases since 1978). Individuals with GS suffer from immune and neurological problems which contribute to a life expectancy as short as ten years.

Diagnosis, treatment and support

There are two ways to diagnose albinism. One is through genetic testing (the most accurate form of diagnosis) and the other is through doctor’s evaluation or an electroretinogram test (this measures the response of the light sensitive cells in the eyes). Since albinism is a genetic disorder, treatment is fairly limited. However, preventive measures can be taken to increase these individuals’ quality of life, such as using SPF, covering up while out and about and getting regular eye and skin checkups.

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Various organizations have also been established to provide specific support to those with albinism:

  • Albinism Fellowship of Australia: Main purpose is to provide support, education and fellowship.
  • Vision Australia: Supports education, employment, an active social life and aims to equip individuals with important skills.
  • The Steve Waugh Foundation: Supports individuals between ages 0-25 years through individual grants, research and awareness campaigns.

I hope I’ve covered the questions you might have regarding albinism. Before I go, I’d like to introduce the selective few who flourished in their respective careers.

Edgar & Jonny Winters // Musicians

Shaun Ross // Model

Salum Khalfani Bar’wani // Tanzania politician

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She’s the world’s first model with albinism.

Connie Chiu // Model & Singer

 

Michael Bowman // Actor

Stephen Thompson// Model

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References
http://www.mayoclinic.org/diseases-conditions/albinism/basics/definition/con-20029935
https://www.nlm.nih.gov/medlineplus/ency/article/001479.htm
http://www.albinism.org/site/c.flKYIdOUIhJ4H/b.9253761/k.24EE/Information_Bulletin__What_is_Albinism.htm
http://www.visionaustralia.org/docs/default-source/eye-health/Fact-sheets/albinism-factsheet_v2_web-(accessible).pdf?sfvrsn=0
https://ghr.nlm.nih.gov/gene/LYST
http://www.healthline.com/health/albinism#symptoms5
http://famewatcher.com/celebrity-albinos-famous-people-albinism.html
http://albinismaustralia.org/
http://www.visionaustralia.org/
https://www.stevewaughfoundation.com.au/

I Was Wondering About…{Perfumes // The Basics}

The memory of my mum’s perfume lingers even after 20 years. The fragrance is sweet, but it can be overwhelming if too much is applied. When I was younger, I refused to separate from my mum. Since she had to carry me everywhere she went, it’s no surprise that her signature perfume was etched in my memory. The rich floral scent belongs to none other than Dior’s Poison, to which I associate comfort, security and motherly love with.

dior-poison
Introduced in 1985, it contains notes of amber, honey, berries and spice.

I don’t know about you but I’m drawn to certain people simply because of the scent they’re wearing. It doesn’t happen very often but when it does, I tend to remember every detail: the location, the people I was with, what we talked about etcetera.

About 3 years ago, I went out with my newly acquainted university friends for a spontaneous dinner. When Amelia and I got to the tram stop to meet the rest of the gang, we greeted everyone who came and did a group hug. That was when I caught a whiff of cologne that made me question how this one guy could smell so darn good. From that day onwards, I longed to be around him just so I could smell his cologne.

I’m a fan of perfumes but I have no knowledge of its history. The Egyptians were the first to create them and perfumes were mainly used in religious ceremonies, burial preparations and daily wear. The Egyptian elites wear scents such as lily to signify their status within the society. The Persians, on the other hand, use perfume as a sign of political status. In 1190, perfumes were produced commercially in Paris which eventually developed into a huge industry.

egyptians-and-perfume

The Egyptians used to mix ointment, balms and essential oils to create a desired scent. But now, the process is much more complicated. Desired scents are either mixed with ethanol or ethanol and water. True perfume may contain up to 40% of scent material while Eau de Parfum contains only up to 20% of scent material. The difference in concentration dictates the strength of the perfume:

  • True perfume (40% scent material)
  • Esprit de Parfum (30% scent material)
  • Eau de Parfum (20% scent material)
  • Eau de Toilette (<15% scent material)

The most common fragrance families are floral, chypre, oceanic, citrus, fruit and gourmand. Although essential oils of plants, animals and seaweed were used in the past (and in some modern all-natural perfume manufacturers), synthetic scents are more popular today. This is because some plants such as lily of the valley don’t produce oil naturally. It also allows perfumers to create unique scents (the scent of Calone has hints of ozone and metal) and reduce animal harvesting.

So far, I’ve touched on the history, the types of perfume as well as the common scent categories. But how are perfumes manufactured?

a) Collection

  • Plants are harvested and hand-picked from around the world while animal products are obtained by extracting the fatty substances from the animal. Synthetic perfumes are created in the lab by perfume chemists.

b) Extraction

There are 5 ways in which essential oils are extracted.

  1. Steam distillation: Steam is passed through plant material, turning oil into gas. It is then cooled and liquefied. Boiling plant substances is another way to extract oils.
  2. Solvent extraction: The flowers are placed in rotating tanks and benzene or a petroleum ether is poured over them. Once a waxy material is obtained, it is placed in ethyl alcohol. Heat is then used to evaporate the alcohol, leaving a higher concentration of perfume oil.
  3. Enfleurage: Flowers are spread on glass sheets coated with grease. These sheets are place between wooden frames so that the grease can absorb the flower’s fragrance.
  4. Maceration: Similar to enfleurage but instead of grease, warmed fats are used to soak up flower’s fragrance. The grease and fats are dissolved in alcohol to obtain the essential oils.
  5. Expression: The oldest and least complex method of extraction, the fruit or plant is manually or mechanically pressed until all the oil is squeezed out.

c) Blending triple-max-ton

  • After the perfume oils are collected, they are blended together according to formulas determined by the ‘nose’ (the expert in perfumery).

d) Aging

  • Fine perfume is often aged for several months or years after it’s blended. The nose will test the perfume to ensure the correct scent is achieved.

The biological significance of perfume use and individual’s preference for specific scents aren’t clearly understood. Contrary to the idea that perfume is used to mask natural body odor, Daly and White (1930) suggest that it’s used to heighten and strengthen natural odor. But what makes you choose Kenzo’s L’Elixir over Dior’s J’adore? The answer may lie in our major histocompatibility complex (MHC)-correlated odor preferences (Vollrath and Milinski, 1995).

The MHC is a large chromosomal region that contains highly polymorphic genes that play a central role in controlling immunological self and non-self recognition. MHC diversity is said to be maintained by pathogen interactions and inbreeding avoidance mechanisms (Penn and Potts, 1999).

It was found that mice and humans prefer potential mates that have different MHC from their own (Egid and Brown, 1989; Yamazaki et al., 1976, 1978, 1983, 1994). In a double-blind study, women (who aren’t using contraceptive pill) prefer the odor of t-shirts worn by MHC-dissimilar men to those with more similar MHC-genotype. The same behavior was demonstrated by men too (Wedekind et al., 1995). This makes sense because the preference for MHC-dissimilar partners will increase MHC heterozygosity of an individual’s offspring (Brown, 1997).

In Milinski and Wedekind’s study, 137 male and female students who had been typed for their MHC (HLA-A, -B, -DR) scored 36 scents in a first test for use on self (“would you like to smell like that yourself?”) and a subset of 18 scents 2 years later either for use on self or for a potential partner (“would you like your partner to smell like that?”). The result showed a significant correlation between the MHC and the scorings of the scents ‘for self’ in both tests. The people who share the same type of MHC also tend to have similar preference for perfume ingredients. The study concludes that perfumes are used to help us reveal our immunogenetics and the MHC genotype can influence our choice of fragrance.

Remember that guy I met 3 years ago? The one who smells really good? Funnily enough, we ended up being more than friends.

The cologne he wore that night was Montblanc’s Starwalker.

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Created in 2005, it carries hints of mandarin, bergamot, nutmeg, white musk, amber, sandalwood, cedarwood, bamboo and ginger.

I currently own Chanel’s No. 5, but there are a couple of scents I want to try in the future. After all, having more than one bottle of perfume provides an individual the freedom to mix things up according to mood and occasion.

perfume-wishlist

Do you have a signature scent? Which one is associated with your favorite memory? Let me know in the comment section!

Want more? I got you covered!

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I Was Wondering About…{Human Body // Asymmetry}

This week I find out why the human body is asymmetrical, on the inside and out.

I was cooling down from a Pilates workout when my virtual instructor said that the right side of her body is stronger and more flexible than her left. I, on the other hand, am stronger on the left side of my body (neither side is flexible though…I’m stiff as an old lady!). I prefer to use my left arm for heavy lifting, I open jars with my left hand and I balance better on my left foot. That was when I begin to wonder: why is our body asymmetrical? And why do we prefer to use one hand over the other? 

Have you ever wondered how our internal organs are arranged? It all starts at the node on the embryo’s midline. The interior of the node is lined with tiny hairs called cilia that whirl round and round in synchronized motion to push the fluid from the right to the left of the embryo. This then triggers a genetic activation on the node’s left hand rim, causing the release of calcium atoms. The surrounding cells respond by making proteins called Nodal, which lead both sides of the embryo to be chemically different.

6-high-magnification-scanning-em-of-the-same-embryonic-node-shown-above-of-an-8-day-old-mouse-embryo-showing-straight-and
High magnification of the embryonic node of an 8 day-old mouse (National Institutes of Health)

While our bodies start out symmetrical, left-right asymmetry begins at around six weeks. The first organ to show asymmetry is the heart. A simple tube loops to the left and different structures start to form on each side of the heart. At the same time, other organs such as the stomach and liver begin to move clockwise away from the midline of the embryo; an appendix appears on the right side of the large intestine; the right lung grows three lobes and two on the left.

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Researchers indicate that it takes three or four hours for the left and right to be determined but there’s still limited understanding of what happens in between. Below are three other questions that require further investigation by the scientific community:

  • Apparently two cilia is enough to start an embryo on its proper development. So what is the function of the rest of the cilia?
  • How exactly does Nodal help determine the anatomy of each side of the body?
  • As most research on this topic is performed on animals such as zebra fish and mice, it’s unclear if humans develop in the same way.

 

Did you know…

1 in 20,000 people suffer from a condition known as situs inversus, whereby the internal organs are inverted left to right! (nytimes)

 

Now that we have some idea of how asymmetry happens inside the human body, let us explore the idea of lateral preference (predominant use of either side of the body for carrying out specific actions). Cognitive scientist Stephanie Braccini states that “a strengthening of individual asymmetry [may have] started as soon as early hominins assumed a habitual upright posture during tool use or foraging”. Our ancestors, Homo habilis and Homo erectus, demonstrated some evidence of right handedness through the stone tools made about 1.5 million years ago in Koobi Fora, Kenya. It wasn’t until the Homo heidelbergensis appeared (some 600,000 years ago) that a clear right handed preference emerged. For example, the wear on the preserved teeth of Homo heidelbergensis suggests that food was usually brought to the mouth with the right hand.

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The division of neurological labor has been an important feature in evolution. Both hemispheres of the brain control motor action on the opposite sides of the body, but they’re not equal in their control of different types of behaviors. This causes a bias of one hand over the other for certain tasks. The dominance of one hemisphere over the other for certain behaviors is known as cerebral lateralization. Having only one hemisphere control a response lowers competition, which enables different processes such as language and attention to function at the same time across two hemispheres. The left hemisphere may be dominant for speech but the same region also controls hand actions. Scientists conclude that this leads the majority of the human population to use their right hand for tools or gestures.

At the start of the development of motor skills, children may use both hands equally for simple actions such as reaching for objects. But when a complex task such as writing is performed, the specialized processing of the left hemisphere is activated. Of course, not all of us are right handed and genetics as well as personal experience both contribute to that difference. We don’t know which hand will be dominant when we’re infants, but through trial and error, we find out which one works better and is more comfortable.

There are plenty of other theories, speculations and arguments on this topic but I won’t be doing an in-depth analysis. But this is pretty interesting, don’t you agree? Also, the fact that left handers who adapt and do things with their right hand is pretty cool. My brother used to be amazed that I could operate the mouse with my right hand even though I’m left-handed. If you’re interested, here’s an interesting read: Left Preference for Sport Tasks Does Not Necessarily Indicate Left-Handedness: Sport-Specific Lateral Preferences, Relationship with Handedness and Implications for Laterality Research in Behavioural Sciences.

And before I sign off, I want those of you who identify as ambidextrous to know this – YOU ARE FREAKING AWESOME.

 

References

http://www.medicaldaily.com/human-body-anatomy-and-physiology-asymmetrical-symmetrical-embryo-371024

http://www.bbc.com/future/story/20141215-why-are-most-of-us-right-handed

http://www.seeker.com/hand-preference-in-humans-animals-explained-discovery-news-1765169608.html

http://theconversation.com/how-childrens-brains-develop-to-make-them-right-or-left-handed-55272