X-chromosome inactivation pattern and telomere length in recurrent pregnancy loss

Data de publicação: 01/12/2024 Data Ahead of Print: 01/08/2024

Autores da FMUP

• Carla Maria De Almeida Ramalho

  Autor

• Cristina Joana Moreira Marques

  Autor

• Sofia Dória Príncipe Dos Santos Cerveira

  Autor

Participantes de fora da FMUP

• Vaz, Diane
• Vasconcelos, Sara
• Canicais, Carla
• Costa, Beatriz

Unidades de investigação

• Ginecologia-Obstetrícia e Pediatria

• Patologia

• RISE-Health

  

  Investigador

  Fernando Carlos De Landér Schmitt

Abstract

Recurrent pregnancy loss is a reproductive disorder affecting about 1 to 5 % of pregnant women worldwide that requires our attention, especially considering that about 50 % of cases are idiopathic. The present study is focused on testing a possible association between extreme skewed X-chromosome inactivation patterns and/or shortened telomeres with idiopathic cases since both are considered non-consensual potential causes underlying recurrent pregnancy loss in the scientific community. For this purpose, two groups of women were analyzed and compared: a group of women with idiopathic recurrent pregnancy loss and a second group of age-matched women with proven fertility, and both X-chromosome inactivation patterns and telomere length were measured and compared from maternal DNA extracted from peripheral blood. Our data showed no statistically significant differences between groups, suggesting no association between extreme skewed X-chromosome inactivation or shortened telomeres with recurrent pregnancy losses. Additionally, the effect of maternal age on both X-chromosome inactivation pattern and telomere length was tested, but no significant correlation was observed between advanced maternal age and extreme skewed X-chromosome inactivation or telomere shortening. This study represents one more valid contribution to the investigation of causes underlying recurrent pregnancy loss suggesting that, new variables may be considered since the pattern of X-chromosome inactivation and telomere length do not seem to be related to this reproductive disorder. Briefly, considering its clinical relevance, it is mandatory a continuous effort in the scientific community to cover new potential recurrent pregnancy loss-related causes.

Keywords

• Recurrent Pregnancy Loss; Maternal age; Telomere Length; X-chromosome Inactivation