Multiple endocrine neoplasia type 1: clinical correlates of MEN1 gene methylation

Pathology
Ricardo De Paoli-IseppiJ R Burgess

Abstract

Multiple endocrine neoplasia type 1 (MEN 1) has marked severity variation between individuals with the same mutation. To investigate any relationship between promoter methylation and clinical features, blood and tissue samples were collected from 16 members of the Tasman 1 MEN 1 kindred carrying a common splice site mutation and 7 patients with sporadic MEN 1. Methylation at 39 CpGs in the MEN1 promoter were assessed in formalin fixed, paraffin embedded parathyroid tissue. Clinical disease severity markers included age at first parathyroid operation, parathyroid hormone level and corrected serum calcium levels. Six patients with sporadic hyperparathyroidism were used for comparison. Minimal methylation was observed in all patients across CpG sites 1-23. In contrast, hypermethylation was observed at CpG sites 24-31 in MEN 1 patients, a pattern not observed in patients with non-MEN 1 parathyroid disease. Mean methylation at sites 24-31 was significantly correlated with age at first parathyroid operation (r = 0.652, p = 0.041). A permutation test, utilising the mean correlation coefficient (r = -0.401) revealed a possible association between relative PHPT severity and methylation score for each significant CpG site (p < 0.103). Th...Continue Reading

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Citations

Jan 11, 2020·The Journal of Clinical Endocrinology and Metabolism·Ryan EndallJohn Burgess
May 19, 2020·Clinical Endocrinology·Prudence HoggJohn Burgess
Mar 23, 2019·Frontiers in Endocrinology·Fabio Luiz de Menezes MontenegroSergio Pereira de Almeida Toledo
Dec 23, 2020·Problemy e̊ndokrinologii·Elizaveta O MamedovaGalina A Melnichenko

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