10:21 AM

1 min read
Microcephaly Blog Image


Recently, a study revealed that a gene called SASS6 and its variants have been implicated in a developmental process that causes microcephaly.

About Microcephaly:

  • It is a rare neurological condition in which an infant's head is much smaller than the heads of other children of the same age and sex.
  • Sometimes detected at birth, microcephaly often occurs when there is a problem with brain development in the womb or when the brain stops growing after birth.
  • It can be caused by a variety of genetic and environmental factors. Children with microcephaly often have developmental issues.
  • Most children with microcephaly also have a small brain, poor motor function, poor speech, and abnormal facial features, and are intellectually disabled.
  • The most common causes include:
    • Infections during pregnancy: toxoplasmosis (caused by a parasite found in undercooked meat), Campylobacter pylori, rubella, herpes, syphilis, cytomegalovirus, HIV and Zika;
    • Exposure to toxic chemicals: Maternal exposure to heavy metals like arsenic and mercury, alcohol, radiation, and smoking;
    • Pre- and perinatal injuries to the developing brain (hypoxia-ischemia, trauma);
    • Genetic abnormalities such as Down syndrome; and severe malnutrition during fetal life.
  • Symptoms: Many babies born with microcephaly may demonstrate no other symptoms at birth but go on to develop epilepsy, cerebral palsy, learning disabilities, hearing loss and vision problems.
  • Treatment: There is no specific treatment for microcephaly.

Q1 What are genetic disorders?

Genetic disorders occur when a mutation (a harmful change to a gene, also known as a pathogenic variant) affects your genes or when you have the wrong amount of genetic material.

Source: How an altered protein and fussy neurons conspire to cause microcephaly