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Protein families are groups of homologous proteins; that is, they have similarities in amino acid sequences and three-dimensional structures. Protein families usually occur because of gene duplication, where an additional copy of a gene is inserted into the genome of an organism.   Mutations that change the amino acids but still allow the protein to be properly synthesized, will lead to new protein family members.   If these new proteins contain similar amino acids in key...
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Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification.

Xiang-Ping Yao1, Xuewen Cheng2, Chong Wang1

  • 1Department of Neurology and Institute of Neurology, The First Affiliated Hospital of Fujian Medical University, Fuzhou 350005, China.

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|June 19, 2018
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Summary

Researchers identified the MYORG gene as the cause of primary familial brain calcification (PFBC), a rare genetic disorder. Loss-of-function mutations in MYORG lead to brain calcification in both humans and mice.

Keywords:
MYORGPFBCastrocytebrain calcificationglycosidase

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Area of Science:

  • Genetics
  • Neuroscience
  • Molecular Biology

Background:

  • Primary familial brain calcification (PFBC) is a rare, genetically diverse neurological disorder.
  • Characterized by abnormal calcium deposits in brain regions like the basal ganglia.
  • The genetic underpinnings of PFBC are not fully understood in many families.

Purpose of the Study:

  • To identify the genetic cause of PFBC in families where the genetic basis was previously unknown.
  • To investigate the role of the MYORG gene in the pathogenesis of brain calcification.

Main Methods:

  • Genetic analysis of six families affected by PFBC.
  • Segregation analysis and calculation of logarithm of odds (LOD) scores.
  • Analysis of Myorg gene expression in mouse astrocytes and creation of Myorg knockout mice.

Main Results:

  • Recessive mutations in the MYORG gene were identified as the cause of PFBC.
  • These MYORG mutations co-segregated with the disorder in affected families (LOD score 4.91).
  • Myorg is expressed in astrocytes, and its absence in mice leads to brain calcification by 9 months of age.

Conclusions:

  • Loss-of-function mutations in MYORG are a significant cause of primary familial brain calcification in humans.
  • The MYORG gene plays a crucial role in preventing brain calcification, conserved across species.
  • This discovery opens new avenues for understanding and potentially treating PFBC.