|
Amelogenesis imperfecta (AI) presents with a rare abnormal formation of the enamel or external layer of the crown of teeth. Enamel is composed mostly of mineral, that is formed and regulated by the proteins in it. Amelogenesis imperfecta is due to the malfunction of the proteins in the enamel: ameloblastin, enamelin, tuftelin and amelogenin. People afflicted with amelogenesis imperfecta have teeth with abnormal color: yellow, brown or grey; this disorder can afflict any number of teeth of both dentitions. The teeth have a higher risk for dental cavities and are hypersensitive to temperature changes as well as rapid attrition, excessive calculus deposition, and gingival hyperplasia.〔American Academy of Pediatric Dentistry, Guideline on Dental Management of Heritable Dental Developmental Anomalies, 2013, http://www.aapd.org/media/Policies_Guidelines/G_OHCHeritable.pdf〕 ==Genetics== Mutations in the ''AMELX'', ''ENAM'', ''MMP20'', ''KLK-4'', ''FAM83H'', ''WDR72'', ''C4orf26'', ''SLC24A4'' ''LAMB3'' and ''ITGB6'' genes have been found to cause amelogenesis imperfecta (non-syndromic form). ''AMELX'' and ''ENAM'' encode extracellular matrix proteins of the developing tooth enamel and ''KLK-4'' and ''MMP20'' encode proteases that help degrade organic matter from the enamel matrix during the maturation stage of amelogenesis. ''SLC24A4'' encodes a calcium transporter that mediates calcium transport to developing enamel during tooth development. Less is known about the function of other genes implicated in amelogenesis imperfecta. Researchers expect that mutations in further genes are likely to be identified as causes of amelogenesis imperfecta. Types include: Amelogenesis imperfecta can have different inheritance patterns depending on the gene that is altered. Mutations in the ENAM gene are the most frequent known cause and are most commonly inherited in an autosomal dominant pattern. This type of inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. Amelogenesis imperfecta is also inherited in an autosomal recessive pattern; this form of the disorder can result from mutations in the ''ENAM'', ''MMP20'', ''KLK4'', ''FAM20A'', ''C4orf26'' or ''SLC24A4'' genes. Autosomal recessive inheritance means two copies of the gene in each cell are altered. About 5% of amelogenesis imperfecta cases are caused by mutations in the AMELX gene and are inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In most cases, males with an X-linked form of this condition experience more severe dental abnormalities than affected females. Recent genetic studies suggest that the cause of a significant proportion of amelogenesis imperfecta cases remains to be discovered. 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Amelogenesis imperfecta」の詳細全文を読む スポンサード リンク
|