What causes albinism? Are there any treatments for it?

Raymond Boissy, a dermatology professor at the University of Cincinnati College of Medicine, explains (as told to Coco Ballantyne):

Albinism is a genetic disease causing partial or complete loss of pigmentation, or coloring, in the skin, eyes and hair. It arises from mutations affecting cells, called melanocytes, that produce the pigment melanin, which gives color to those body parts. Inindividuals with albinism, genetic alterations interfere with the melanocytes’ production of pigment or their ability to distribute it to keratinocytes, the major cell type of the skin's outer layer.

The most common forms of albinism are oculocutaneous type 1 (OCA1) and type 2 (OCA2). Oculocutaneous means the disease affects the eyes (“oculo”) and skin (“cutaneous”). People with OCA1 have mutations in a gene called TYR that is responsible for production of the enzyme tyrosinase, used by cells to convert the amino acid tyrosine into pigment. OCA2, the most common form in Africa, results from a mutation in the OCA2 gene, which encodes the P protein—a protein whose role is not totally clear. This mutation is probably the oldest one causing albinism and, putatively, originated during humankind's development in Africa.

Most people with OCA1 have white skin, white hair and pigmentless eyes. The iris, the colored part of the eye encircling the pupil, is pale, whereas the pupil itself may appear red. This redness results from light reflecting off blood vessels in the retina, the light-sensitive layer of tissue lining the back of the eyeball. Pupils ordinarily appear black because pigment molecules in the retina absorb light and prevent it from bouncing back out. People with OCA2 can make a small amount of pigment and thus may have somewhat less pronounced visual symptoms.

Individuals with albinism are often legally blind. Without melanin during the embryonic stage, the neuronal tracts leading from the eye to the visual cortex of the brain develop aberrantly, resulting in diminished depth perception. And in the absence of pigment in the eye, retinal photoreceptors can become overstimulated and send confusing messages to the brain, which often also produce a nystagmus, or fluttering of the eyes.

A dearth of skin pigment leaves people more susceptible to nonmelanoma skin cancers such as squamous cell carcinoma and basal cell carcinoma. Normally functioning melanocytes distribute pigment to keratinocytes to shield the nucleus and the DNA inside from the sun's ultraviolet radiation. People with albinism may also experience premature skin aging, because UV-blocking melanin helps to prevent wrinkling and the loss of the skin's elasticity.

Researchers such as geneticist Richard King of the University of Minnesota and cell biologist Vitali Alexeev of Thomas Jefferson University are working on gene therapies or drugs that would fix albinism-causing mutations. Scientists have had some success in correcting patches of depigmented skin and hair in mice, but they are a long way from translating this research to humans.

Why do two things I like to eat sometimes taste so bad when eaten together?
—R. Lange, Houston

Biosciences professor Tim Jacob, who studies smell and taste at Cardiff University in Wales, mixes up an answer:

Among the five tastes, salty, sweet and umami (meaty or savory) are appetitive, driving us toward essential nutrients, whereas bitter and sour are aversive, alerting us to potentially harmful substances. Mixing the aversive with the appetitive sends conflicting information to the brain, and confusion is what the senses are trying to avoid as they supply you with useful, lifesaving information. This mixed signal is why you reject food that has gone off. You do not want to eat a blend of the good and the bad.

Yet consider the phrase “sugaring the pill”: pills are medicine and as such are poisonous in large quantities. They thus taste bitter but can be made more palatable by a camouflaging sugar coating. Similarly, coffee can be improved for people who are sensitive to bitterness by masking its sharpness with cream or sugar.

As adults, we can override these warnings and acquire tastes for coffee, olives or strong cheese. But you will confound your senses if you mix a formerly aversive taste with an appetitive one. (Care for some pickles and cocoa?) There can be delight in the confusion, however: sweet and sour is a popular choice in Chinese cuisine.

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