PMF IAS Test Series for UPSC Prelims Banner Ad
PMF IAS Test Series for UPSC Prelims Banner Ad
  • Context (TH): Recent research by the Maternity and Child Health Care Hospital of Nantong University, China, have confirmed the role of the SASS6 gene in microcephaly.
  • Findings: If one copy of the SASS6 gene is non-functional, the other retains some function. If both copies are non-functional, the embryo dies before becoming a foetus.

Microcephaly

MICROCEPHALY – PMF IAS

Credit: MCH hospital

  • It is a condition in which a baby’s head is much smaller than normal.
  • Symptoms: Small brain, poor motor function & speech, abnormal facial features, intellectual disability.
  • Why it happens?: During the peak phase of brain development in the embryo, cells that become neurons fail to divide normally.
  • Possible Causes
    • Infections during pregnancy: Toxoplasmosis (caused by a parasite found in undercooked meat), campylobacter pylori, rubella, herpes, syphilis, cytomegalovirus, HIV and Zika Virus.
    • Exposure to toxic chemicals like arsenic and mercury, alcohol, radiation and smoking.
    • Genetic abnormalities such as Down syndrome.
    • Severe malnutrition during fetal life.
  • Related Gene: The SASS6 gene and its variants have been linked to microcephaly since 2014.
  • Diagnosis: Can be diagnosed before birth using fetal ultrasound and MRI.

About the SASS6 gene

  • In 2004, researchers found the SASS6 gene in the roundworm Caenorhabditis elegans. These genes contain instructions for cells to make structures called centrioles.
  • It encodes a protein with 657 amino acids. This protein assembles new centrioles during cell division. The protein made by this gene exists across animals.
  • An individual with a slightly defective SASS6 gene can survive to birth and adulthood. However, they suffer serious brain and head deficits and intellectual disability.
  • Different cell types tolerate deficits in centriole composition and function differently. Cells destined to become neurons are the least tolerant of imperfect centrioles.
Sharing is Caring !!

Newsletter Updates

Subscribe to our newsletter and never miss an important update!

Assured Discounts on our New Products!

Leave a Reply

Your email address will not be published. Required fields are marked *

Newsletter

Never miss an important update!