Identifying Mutations in the ABCD1 Gene Related to X-Linked Adrenoleukodystrophy in India
Author Information
Author(s): Kumar Neeraj, Taneja Krishna Kant, Kalra Veena, Behari Madhuri, Aneja Satinder, Bansal Surendra Kumar
Primary Institution: Department of Biochemistry, Vallabhbhai Patel Chest Institute, University of Delhi, Delhi, India
Hypothesis
The study aims to identify novel mutations and SNPs in the ABCD1 gene associated with X-ALD in an Indian population.
Conclusion
The study identified four novel mutations and three novel SNPs in the ABCD1 gene among X-ALD patients in India, contributing to the understanding of the genetic spectrum of the disease.
Supporting Evidence
- The study identified 4 novel mutations and 3 novel SNPs in the ABCD1 gene.
- Clinical features included neuroregression, seizures, and cognitive decline in patients.
- All patients had elevated plasma levels of very long-chain fatty acids (VLCFA).
- Each patient possessed only one mutation in the ABCD1 gene.
Takeaway
Researchers looked at patients with a rare disease called X-ALD and found new changes in their genes that could help explain why they are sick.
Methodology
The study involved genomic sequencing of the ABCD1 gene in 17 X-ALD patients and 70 controls, along with Western blot analysis of protein expression.
Limitations
The study is limited by the small sample size and the lack of genotype-phenotype correlation.
Participant Demographics
The study included 17 patients (15 males and 2 female carriers) of Indian origin and 70 healthy controls.
Digital Object Identifier (DOI)
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