Study Links Genetic Mutation to Early Puberty

First Posted: Jun 06, 2013 07:57 AM EDT

A latest study reveals a strong association between genetic mutation and premature puberty known as central precocious puberty, which leads to the development of secondary sexual characteristics in girls before the age of 8 and before the age of 9 in boys.

Early puberty poses adverse effects to social, behavioral and psychological development. It also triggers various physical effects such as short stature, health risk, heart diseases and breast cancer.

The study helps in understanding what controls the timing of puberty, and was conducted by researchers at the Brigham and Women's Hospital (BWH), in collaboration with Boston Children's Hospital, the Broad Institute, and the University of Sao Paulo, Brazil.

"This study will allow doctors to diagnose the cause of precocious puberty in a subset of patients, or to identify patients at risk for developing precocious puberty, especially if others in their family are affected. By better understanding the role of this gene in the timing of puberty, we may be able to gain insights into how other factors, such as environmental factors, may influence pubertal timing," Ursula Kaiser, MD, chief of the BWH Division of Endocrinology, Diabetes and Hypertension, co-senior study author, said in a press statement.

To prove the hypothesis, researchers conducted a study on 40 participants from 15 different families, who had experienced central precocious puberty. They conducted a whole exome sequencing analysis and noticed four mutations in the MKRN3 gene among five of the participants. This gene is accountable for coding a protein called makorin ring finger protein 3, which aids in marking other proteins for degradation.

This genetic mutation led to shortened MKRN3 protein as well as the interruption in the functioning of the protein. Mutation in the gene MKRN3 triggers premature activation of the reproductive hormones in the body, thereby causing early puberty.

The researchers were surprised when they noticed that all the affected people had inherited the mutations from their father. The gene MKRN3 was located on the same gene as the Prader-Willi syndrome, which causes short stature, severe obesity and other cognitive disabilities.  

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