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Microcephaly and the Role of the SASS6 Gene
Context
Recent research confirmed the SASS6 gene's role in microcephaly and neuron development.
What is Microcephaly?
- Microcephaly is a condition where a baby’s head is much smaller than normal.
- Children with microcephaly often have a small brain, poor motor skills, speech difficulties, abnormal facial features, and intellectual disabilities.
- The condition originates during the peak phase of brain development in the embryo when cells that should become neurons fail to divide normally.
- It can be diagnosed before birth using ultrasound and MRI.
- Consanguineous marriages: Marriages between close relatives, such as first cousins, increase the risk of microcephaly. This is because the chance of inheriting two mutated copies of a gene, including the SASS6 gene, is higher.
The Role of the SASS6 Gene
- The SASS6 gene is crucial for cell division, particularly in forming structures called centrioles, which are essential for this process.
- Since 2014, this gene has been linked to microcephaly. If one copy of the SASS6 gene is non-functional, the other can partially compensate. However, if both copies are non-functional, the embryo dies before becoming a fetus.
- This shows the critical role of the SASS6 gene in early development.
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