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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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Analysis of mutations causing biotinidase deficiency.

Kirit Pindolia¹, Megan Jordan, Barry Wolf

¹Department of Medical Genetics, Henry Ford Hospital, Detroit, Michigan 48202, USA.

|June 18, 2010

Summary

Biotinidase deficiency, an inherited disorder affecting biotin recycling, can cause severe symptoms if untreated. This study identifies 140 mutations in the biotinidase gene (BTD), aiding diagnosis in newborns.

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In Vitro Biochemical Assays using Biotin Labels to Study Protein-Nucleic Acid Interactions

In Vitro Biochemical Assays using Biotin Labels to Study Protein-Nucleic Acid Interactions

Published on: July 17, 2019

Area of Science:

Genetics
Biochemistry
Newborn Screening

Background:

Biotinidase deficiency is an inherited metabolic disorder impacting biotin recycling.
Untreated individuals may develop neurological and cutaneous symptoms.
Newborn screening programs widely incorporate biotinidase deficiency testing.

Purpose of the Study:

To compile and characterize known mutations in the biotinidase gene (BTD) causing biotinidase deficiency.
To provide a resource for clinical laboratories performing mutation analysis for diagnostic confirmation.

Main Methods:

Identification and cataloging of 140 mutations in the BTD gene.
Analysis of mutation types and their impact on enzyme activity.
Prediction of the three-dimensional structure of biotinidase based on homology.

Main Results:

140 mutations in the BTD gene associated with biotinidase deficiency have been identified.
Most mutations result in profound deficiency (<10% activity), with one exception (c.1330G>C) showing 50% activity.
Missense mutations are predicted to affect critical sites in the enzyme's structure.

Conclusions:

This comprehensive list of BTD variants aids in confirming diagnoses for newborns identified via screening.
Understanding mutation effects on enzyme structure and activity is crucial for accurate diagnosis and management.