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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

A mutation map for human glycoside hydrolase genes.

Lars Hansen¹, Diab M Husein², Birthe Gericke²

¹Copenhagen Center for Glycomics, Department of Cellular and Molecular Medicine, Mærsk Building, University of Copenhagen, Blegdamsvej 3B, 2200 Copenhagen N, Denmark.

|February 11, 2020

Summary

This study maps human glycoside hydrolase (GH) genes and their mutations, revealing a higher prevalence of disease-causing variants compared to glycosyltransferases. It identifies novel mutations linked to rare congenital disorders of GHs (CDGHs).

Keywords:

WES congenital disorders of glycoside hydrolysis nsSNV

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Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

Published on: February 10, 2023

Area of Science:

Genomics and Human Genetics
Biochemistry and Molecular Biology
Rare Disease Research

Background:

Glycoside hydrolases (GHs) are crucial enzymes in all life domains, involved in various cellular functions.
Congenital disorders of GHs (CDGHs) are rare genetic diseases caused by mutations in GH genes.
Previous research mapped mutations in human glycosyltransferases (GTs), finding them rare and often lethal.

Purpose of the Study:

To investigate the incidence and spectrum of deleterious mutations in human GH-related genes.
To construct a comprehensive mutation map of human GH genes (GlyMAP-II).
To identify novel mutations associated with CDGHs.

Main Methods:

Utilized whole-exome sequencing (WES) data from a Danish population of nearly 2000 individuals.
Developed a mutation map (GlyMAP-II) for human GH-related genes.
Correlated identified variations with reported disease-causing mutations and experimentally validated novel nsSNVs in the SI gene.

Main Results:

Confirmed a higher prevalence of disease-causing mutations in GH genes compared to GT genes.
Identified 76 novel nonsynonymous single-nucleotide variations (nsSNVs) in 32 GH genes.
Experimentally validated two novel potentially damaging nsSNVs in the congenital sucrase-isomaltase deficiency gene (SI).

Conclusions:

The study provides a global overview of human GH genes and associated disease-causing mutations.
GlyMAP-II serves as a valuable resource for discovering novel damaging nsSNVs in CDGHs.
GH gene mutations are more prevalent and less severe than GT gene mutations in the context of congenital disorders.