Modeling CSF‐1 receptor deficiency diseases – how close are we?. (5th July 2021)

• Record Type: Journal Article
• Authors: Chitu, Violeta; Gökhan, Şölen; Stanley, E. Richard
• Is Part Of: FEBS journal. Volume 289:Number 17(2022)
• Page Start: 5049
• Page End: 5073
• Publication Date: 2021-07-05
• Subjects: ALSP -- BANDDOS -- CRL -- CSF‐1R -- dysosteosclerosis -- HDLS -- leukodystrophy -- microglia -- neurodegeneration -- POLD; Biochemistry -- Periodicals; Molecular biology -- Periodicals; Pathology, Molecular -- Periodicals; 572
• DOI: 10.1111/febs.16085
• Languages: English
• ISSNs: 1742-464X

Abstract

Abstract : The role of colony‐stimulating factor‐1 receptor (CSF‐1R) in macrophage and organismal development has been extensively studied in mouse. Within the last decade, mutations in the CSF1R have been shown to cause rare diseases of both pediatric (Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis, OMIM #618476) and adult (CSF1R‐related leukoencephalopathy, OMIM #221820) onset. Here we review the genetics, penetrance, and histopathological features of these diseases and discuss to what extent the animal models of Csf1r deficiency currently available provide systems in which to study the underlying mechanisms involved. Abstract : Colony‐stimulating factor‐1 receptor (CSF‐1R) is a receptor tyrosine kinase that controls the development of most tissue macrophages and of bone‐resorbing osteoclasts. Mutations in the CSF1R cause rare diseases of both pediatric and adult onset that share a strong neurological component and, depending on the gene dosage, can also involve osteosclerosis. The defining features of these diseases, their reproducibility in animal models of Csf1r deficiency, and insights prompting emerging therapies are discussed.