Which are the causes of Meckel Syndrome?

Meckel Syndrome is a rare genetic disorder that primarily affects the development of various organs and tissues in the body. It is characterized by a combination of severe abnormalities that can lead to prenatal or neonatal death. The syndrome is named after Johann Friedrich Meckel, a German anatomist who first described it in the early 19th century.

The exact causes of Meckel Syndrome are not fully understood, but it is believed to be primarily inherited in an autosomal recessive manner. This means that both parents must carry a copy of the mutated gene and pass it on to their child for the syndrome to manifest. When both parents are carriers, there is a 25% chance with each pregnancy that the child will have Meckel Syndrome.

Several genes have been identified as potential causes of Meckel Syndrome. Mutations in these genes disrupt the normal development of various structures in the body, leading to the characteristic features of the syndrome. One of the most commonly affected genes is the MKS1 gene, which is involved in the formation of cilia, tiny hair-like structures that play a crucial role in cell signaling and development. Other genes implicated in Meckel Syndrome include TMEM67, CEP290, RPGRIP1L, and CC2D2A.

Abnormalities in cilia function are thought to be a key factor in the development of Meckel Syndrome. Cilia are found on the surface of many cells and are involved in various cellular processes, including signaling pathways during embryonic development. Disruption of cilia function can lead to malformation of organs and tissues, contributing to the wide range of abnormalities seen in Meckel Syndrome.

Environmental factors may also play a role in the development of Meckel Syndrome. However, the specific factors and their interactions with genetic mutations are not yet fully understood. It is believed that certain environmental exposures during pregnancy may increase the risk of Meckel Syndrome in individuals who are already genetically predisposed.

It is important to note that Meckel Syndrome is a rare disorder, and most cases occur sporadically without a family history. In these cases, the genetic mutation responsible for the syndrome may arise spontaneously during early development. Genetic counseling and testing can help identify carriers of the mutated genes and provide information about the risk of recurrence in families affected by Meckel Syndrome.