• Jonas Wixner, Konen Obayashi, Yukio Ando, Pontus Karling, and Intissar Anan.
• Department of Public Health and Clinical Medicine, Umeå University, Umeå, Sweden. jonas.wixner@medicin.umu.se
• Amyloid. 2013 Jun 1; 20 (2): 99-106.

BackgroundHereditary transthyretin (TTR) amyloidosis is a systemic neuropathic disorder caused by TTR gene mutations. Gastrointestinal complications are common and the underlying mechanisms remain unclear. The interstitial cells of Cajal (ICC) function as pacemaker cells in the gastrointestinal tract and are important for gastrointestinal motility. The aim of this study was to investigate the densities of gastric ICC and nerves in patients with TTR amyloidosis compared to non-amyloidosis controls.MethodsAntral wall autopsy specimens from 11 Japanese ATTR V30M patients and 10 controls were analyzed with immunohistochemistry and computerized analysis. Antibodies to c-Kit and TMEM16A were used to assess ICC and an antibody to PGP 9.5 was used to assess nervous tissue. The study was approved by a Japanese ethical committee.ResultsThe densities of c-Kit-immunoreactive (IR) ICC were significantly lower in the circular and longitudinal muscle layers of patients compared to controls (p = 0.004 for both). Equivalent results were found for TMEM16A-IR ICC. There were no significant differences in PGP 9.5-IR cells in the circular or longitudinal muscle layers between patients and controls (p = 0.173 and 0.099, respectively).ConclusionsA loss of gastrointestinal ICC may be an important factor for the digestive disturbances in hereditary TTR amyloidosis.

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