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Keywords = masticatory muscle tendon–aponeurosis hyperplasia (MMTAH)

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13 pages, 1308 KiB  
Article
Genetic Landscape of Masticatory Muscle Tendon–Aponeurosis Hyperplasia
by Rina Tajima, Atsuko Okazaki, Tsuyoshi Sato, Kokoro Ozaki, Daisuke Motooka, Yasushi Okazaki and Tetsuya Yoda
Genes 2023, 14(9), 1718; https://doi.org/10.3390/genes14091718 - 29 Aug 2023
Cited by 1 | Viewed by 1710
Abstract
Limited mouth opening is a characteristic of masticatory muscle tendon-aponeurosis hyperplasia (MMTAH). Although genetic involvement is suspected where familial onset is frequently observed, the genetic background of MMTAH is yet to be elucidated. In this study, we conducted whole genome sequencing of 10 [...] Read more.
Limited mouth opening is a characteristic of masticatory muscle tendon-aponeurosis hyperplasia (MMTAH). Although genetic involvement is suspected where familial onset is frequently observed, the genetic background of MMTAH is yet to be elucidated. In this study, we conducted whole genome sequencing of 10 patients with MMTAH and their family members when available. We also conducted RNA sequencing of normal temporal tendon (as disease region) and Achilles tendon (as control region) from commercially available pig samples. We identified 51 genes that had rare variants in patients with MMTAH and were highly expressed in the temporal tendons of pigs. Among the 51 genes, 37 genes have not been reported to be causative for human genetic diseases so far. As an implication of genetic involvement in the pathogenesis of MMTAH, 21 of these 37 genes were identified in two independent families. In particular, PCDH1 and BAIAP3 were identified in one affected individual in a family and consistently segregated in unrelated family, indicating they could be candidate causative genes of MMTAH. Our findings will help elucidate the genetic landscape of MMTAH and provide insights into future possibilities for tendon regeneration treatment. Full article
(This article belongs to the Section Human Genomics and Genetic Diseases)
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