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Diagnosis

Tangier disease (TD) can be detected through genetic screenings for a mutation on the ABCA1 protein in chromosome 9q31. However, this mutation can be difficult to detect so most diagnosis are based on clinical features the patient shows. ^[1]

The ABCA1 protein consists of two six trans-membrane domains that are connected to each other by a highly hydrophobic region. Mutations occur usually near the first trans-membrane domain of the protein and can cause inactivation of the protein as a whole. Inactivation of ABCA1 protein can lead to several symptoms listed above. ^[1]

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Topics to consider adding: –Genetic testing availability -mechanism of how ABCA1 protein functions normally and mutated

^ ^a ^b Rust, Stephan; Rosier, Marie; Funke, Harald; Real, Jose; Amoura, Zahir; Piette, Jean-Charles; Deleuze, Jean-Francois (1999). "Tangier disease is caused by mutations on the gene encoding ATP-binding cassette transporter 1". Nature Genetics. 22: 352–355.

[:0-1] Rust, Stephan; Rosier, Marie; Funke, Harald; Real, Jose; Amoura, Zahir; Piette, Jean-Charles; Deleuze, Jean-Francois (1999). "Tangier disease is caused by mutations on the gene encoding ATP-binding cassette transporter 1". Nature Genetics. 22: 352–355.

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