18-methyleicosanoic acid

Description

18-methyleicosanoic acid, also known as **phytanic acid**, is a branched-chain fatty acid that is found in small amounts in the human body. It is particularly important in research because it is associated with a rare, genetic disorder called **Refsum disease**.

**Here's why 18-methyleicosanoic acid is crucial in research:**

* **Refsum Disease:** Individuals with Refsum disease have a deficiency in the enzyme **phytanoyl-CoA hydroxylase**, which is essential for the breakdown of phytanic acid. This leads to a buildup of phytanic acid in the body, causing a range of symptoms including:
* **Neuropathy:** Damage to the peripheral nerves leading to numbness, tingling, and weakness in the extremities.
* **Retinitis pigmentosa:** Progressive degeneration of the retina, causing night blindness and eventual vision loss.
* **Cerebellar ataxia:** Difficulty with coordination and balance.
* **Hearing loss:** Damage to the auditory nerves.
* **Skin problems:** Scaly skin, ichthyosis, and dry skin.

* **Understanding the Role of Phytanic Acid:** Research on phytanic acid is crucial to understand the underlying mechanisms of Refsum disease and other related disorders. By studying the role of phytanic acid in various cellular processes, scientists can develop better diagnostic tools, therapeutic strategies, and potential gene therapies for treating these conditions.

* **Dietary and Environmental Factors:** Studies involving phytanic acid also shed light on the impact of dietary intake and environmental factors on human health. For instance, phytanic acid is primarily obtained from ruminant fat (e.g., beef, lamb, dairy products) and certain plant oils. Understanding its metabolism can help inform dietary recommendations and strategies for managing specific health conditions.

* **Potential for Drug Development:** Research on phytanic acid may lead to the development of new drugs that target its metabolism and potentially alleviate symptoms of Refsum disease and related disorders.

In summary, 18-methyleicosanoic acid (phytanic acid) is a significant molecule in research due to its role in Refsum disease and its potential to unlock new insights into the human body's metabolic processes, dietary impacts, and drug development for specific genetic disorders.

18-methyleicosanoic acid: structure in first source [Medical Subject Headings (MeSH), National Library of Medicine, extracted Dec-2023]

18-methylicosanoic acid : A methyl-branched fatty acid that is arachidic acid substituted by a methyl group at position 18. [Chemical Entities of Biological Interest (ChEBI), Hastings J, Owen G, Dekker A, Ennis M, Kale N, Muthukrishnan V, Turner S, Swainston N, Mendes P, Steinbeck C. (2016). ChEBI in 2016: Improved services and an expanding collection of metabolites. Nucleic Acids Res]