Nitisinone increases melanin production in rare type of albinism


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Research suggests that the drug nitisinone increases melanin production in some people with oculocutaneous albinism. It is a rare genetic disease that causes pale skin, hair and poor vision. Increased melanin could help protect people with the condition against the sun’s UV rays.

It also promotes the development of normal vision. Most vision problems for people with albinism occur during the early development of the eye. The purpose of this pilot study was to ensure the safety of nitisinone.

National Eye Institute (NEI) conducted this pilot study. NEI is part of the National Institutes of Health (NIH). NEI Intramural Program funded this study. The study appears in JCI Insight.

What did they do?

The study pursued three ladies and two men for 18 months. They needed to take a daily oral 2 mg dose of nitisinone for a year. However, they needed to end the medication for the remaining half year. While on nitisinone, most study volunteers demonstrated a slight darkening of skin and hair.

One member’s skin somewhat darkened after sun exposure. However, the analysts were not able to distinguish clinically noteworthy changes in eye melanin or in visual sharpness. Affirmatively, they saw some improvement in the imaging of iris. This was a marker that vision can too be improved with the drug use.

Prevalence of the disease

Oculocutaneous albinism (OCA) is a rare inherited disease. There is a mutation in genes that make melanin. Melanin is a dark-colored pigment found in hair, skin, and eyes.

In the United States, the most common form of OCA is OCA-1. There is a mutation in a gene which makes an enzyme tyrosinase. This enzyme induces the breakdown of the amino acid tyrosine into its component parts. This process is critical for the production of melanin. People with OCA-1B have some tyrosinase, but it functions poorly. People with OCA-1A have no tyrosinase at all. Approximately one in 17,000 people worldwide have a form of OCA.

Nitisinone builds the grouping of the amino acid tyrosine in the blood. In individuals with OCA-1B, more elevated amounts of tyrosine help settle transformed tyrosinase. Consequently, it makes the compound progressively powerful. Past examinations have demonstrated that nitisinone has no impact on OCA-1A. There is no tyrosinase to settle in OCA-1A. Nitisinone also has no influence on OCA-3. It is because of an alternation in a segment of the melanin pathway.

Nitisinone might solve more cases of albinism in the future

U.S. Sustenance and Drug Administration approves nitisinone to treat tyrosinemia. It is a rare metabolic illness which can cause liver and neurological issues. However, with this research scientists can work with this drug to solve other types of albinism.

Scientists are currently administrating the drug for mice with OCA-2 and OCA-4. They are hopeful that it might bring some solutions by the end of the study. Nitisinone may improve iris pigmentation and visual keenness in youngsters. It could also have a greater impact on younger kids with OCA-1B.

Source

https://insight.jci.org/articles/view/124387

 

 


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Areeba Hussain
The author is a Medical Microbiologist and healthcare writer. She is a post-graduate of Medical Microbiology and Immunology. She covers all content on health and wellness including weight loss, nutrition, and general health.

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