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Mutations are heritable changes in an organism’s genome involving alterations in the base sequence of DNA or RNA. These changes can influence cellular processes and phenotypic traits, potentially transforming the unaltered wild type into a mutant form. Such changes, termed forward mutations, are pivotal in shaping the genetic diversity of organisms.RNA viruses exhibit the highest mutation rates due to the absence of robust proofreading mechanisms during genome replication. In contrast,...
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Recurrent and novel GLB1 mutations in India.

Abdul Mueed Bidchol1, Ashwin Dalal2, Rakesh Trivedi3

  • 1Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India.

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|May 5, 2015
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Summary

GM1 gangliosidosis, a genetic disorder, results from GLB1 gene mutations causing a deficiency in beta-d-galactosidase. This study identified 33 mutations, including 20 novel ones, in 50 Indian families, advancing understanding of this rare disease.

Keywords:
GLB1 geneGM1 gangliosidosisIndiaMutation

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Area of Science:

  • Genetics
  • Biochemistry
  • Molecular Biology

Background:

  • GM1 gangliosidosis is a rare lysosomal storage disorder.
  • It is caused by mutations in the GLB1 gene, leading to a deficiency of the enzyme beta-d-galactosidase.
  • Understanding the genetic basis is crucial for diagnosis and potential therapies.

Purpose of the Study:

  • To identify and characterize mutations in the GLB1 gene in Asian Indian families with GM1 gangliosidosis.
  • To expand the spectrum of known GLB1 mutations.
  • To analyze the distribution and potential impact of these mutations on protein structure and function.

Main Methods:

  • Exome and flanking intronic sequencing of the GLB1 gene.
  • Mutation identification and classification (novel vs. reported, missense, splicing, indel, nonsense).
  • In silico analysis of mutation effects on protein structure and function.

Main Results:

  • 33 distinct GLB1 mutations identified in 50 families, with 20 being novel.
  • Common mutations c.75+2InsT (14%) and p.L337P (10%) were prevalent.
  • 67% of allele frequency was attributed to known mutations, indicating recurrence across populations.
  • 23 mutations were located in critical functional domains (TIM barrel, beta-domains).
  • In silico analysis confirmed the detrimental impact of novel mutations on GLB1 protein.

Conclusions:

  • This study reports the largest series of GM1 gangliosidosis patients and the first from India.
  • The findings expand the mutational landscape of GM1 gangliosidosis.
  • The recurrence of certain mutations suggests potential founder effects or selective pressures in the studied population.