Gene Mutation Behind Cleft Lip, Study in Surabaya Finds the Dominant One

TEMPO.CO, Jakarta – There is a dominant variant in one gene among children with cleft lips or orofacial clefts (Cleft Lip and Palate, CLP) in Surabaya. That gene is CDH1 whose variant is more dominant than mutations in two other genes which are also commonly found in cases of cleft lip, namely IRF6 and TGFβ3.

These findings were disclosed in Regina Purnama Dewi Iskandar’s dissertation from the Faculty of Dentistry, Airlangga University (Unair), Surabaya. Regina underwent an Open Doctoral Examination for her dissertation on Monday, May 22, 2023. At that hearing, objectors considered her findings to support early detection and prevention of cases of cleft lip in the future.

As quoted from her dissertation, Regina explained that cleft lip is a developmental anomaly that occurs during the pregnancy process, due to failure of the fusion of the lip and palate structures. Until now, the etiology of CLP is not known with certainty, although many studies have been carried out, because it is multifactorial in nature. Including because many genes are involved in its occurrence.

In her research, Regina found that CLP patients in Surabaya proved that the IRF6, TGFβ3, and CDH1 gene profiles were different from those in the control or non-CLP group. The dominant genetic variation in CLP sufferers in that city is a mutation in the CDH1 gene (p.Val188Phe).

In this variation, the amino acid Valine changes to Phenylalanine at position 188 of the CDH1 gene. “It causes changes in the structure of the Ecadherin protein resulting in failure of the Epithelial-Mesenchymal Transition (EMT) process during palatogenesis during pregnancy,” said Regina.

Regina studied a population of cleft lip sufferers registered at the Cleft Lip and Palate Center Surabaya Foundation. Criteria for the age of the patient is more than 7 years and does not suffer from systemic disorders. While the control population is people who do not suffer from CLP, and there is no family history of this disorder up to three generations before.

During the trial, Regina also revealed that environmental factors contribute to gene mutations (epigenetics) that cause cleft lip which are passed on from parents to their children. These environmental factors, especially air pollution from mining, motorized vehicles, and cigarette smoke, which he said pose a risk of increasing CLP cases.

“It is possible that water pollution can cause it, but only a few studies have been conducted in Indonesia,” said the Scholarship Recipient of the Ministry of Education and Culture for the Batch III Major Doctorate Program.

This research was conducted at the Institute of Tropical Diseases based on information from ITD researcher Siti Qomariah

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