Faulty gene destroys nerve membrane
doi:10.1038/nindia.2011.167 Published online 17 November 2011
Researchers have identified new genetic mutations in Indian patients suffering from X-linked adrenoleukodystrophy (X-ALD), a disease that progressively destroys the fatty membrane of nerve cells in the brain and spinal cord. The mutations have been linked to X ALD, thus providing clues to the early diagnosis of X ALD.
X ALD mainly affects the nervous system and the adrenal glands. Children with the cerebral form of X ALD experience learning and behavioural problems that usually appear by the age of 10. The principal biochemical abnormality in X ALD is increased levels of saturated very-long-chain fatty acids, which is caused by mutations in the ABCD1 gene. Globally, X-ALD affects one in 14,000, making it one of the most prevalent nerve diseases.
To date, no molecular and mutational data on X ALD has been available in India. In the hope of pinning down new disease-causing mutations, the researchers looked at genetic mutations in the ABCD1 genes for 20 Indian patients suffering from X ALD. They also performed prenatal diagnosis in one family using a sample of chorionic villi (part of the border between maternal and fetal blood during pregnancy) at 12 weeks of pregnancy.
The researchers identified four novel mutations and six mutations in the ABCD1 genes of the X ALD patients. The study showed that these mutations could be linked to X ALD.
The researchers say that the study successfully identifies the mutation spectrum of Indian X ALD patients, enabling accurate genetic counselling, carrier detection and prenatal diagnosis.