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Intracranial calcification in Fam20c-deficient mice recapitulates human Raine syndrome.
Hua Zhang1, Yongbo Lu1, Phillip R Kramer1
1Department of Biomedical Sciences, Texas A&M University School of Dentistry, Dallas, TX 75246, USA.
Neuroscience Letters
|March 13, 2023
Summary
Loss of FAM20C protein kinase function in mice causes brain calcification, suggesting a crucial role for FAM20C in maintaining brain homeostasis and preventing ectopic intracranial calcification.
Area of Science:
- Biochemistry
- Neuroscience
- Genetics
Background:
- FAM20C (family with sequence similarity 20-member C) is a protein kinase vital for calcified tissue formation.
- FAM20C mutations cause Raine syndrome, characterized by osteosclerosis and intracranial calcification.
- Previous studies linked Fam20c inactivation in mice to hypophosphatemic rickets.
Purpose of the Study:
- To investigate the expression of Fam20c in the mouse brain.
- To examine the role of Fam20c in preventing brain calcification.
Main Methods:
- Reverse transcription polymerase chain reaction (RT-PCR) and Western-blotting for expression analysis.
- In situ hybridization to determine Fam20c localization.
- X-ray and histological analyses to detect brain calcification in Fam20c-deficient mice.
Main Results:
- Fam20c is broadly expressed throughout the mouse brain.
- Global Fam20c deletion (Sox2-cre) induced bilateral brain calcification by 3 months postnatally, starting in the thalamus.
- Brain-specific Fam20c deletion (Nestin-cre) also caused cerebral calcification, but without skeletal defects.
Conclusions:
- Local loss of FAM20C function in the brain directly contributes to intracranial calcification.
- FAM20C is essential for maintaining normal brain homeostasis and preventing ectopic calcification within the brain.
