Disease relevance of SPG21

• Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia [1].
• Human Mast cell progenitors can be infected by macrophagetropic human immunodeficiency virus type 1 and retain virus with maturation in vitro [2].
• BACKGROUND: Mast cell recruitment and activation are critical for the initiation and progression of inflammation and fibrosis [3].
• Hematologic Aspects of Mastocytosis: II: Management of Hematologic Disorders in Association with Systemic Mast Cell Disease [4].
• OBJECTIVE: Mast cell tryptase has been proposed to be involved in the pathogenesis of human inflammatory bowel disease (IBD) [5].

High impact information on SPG21

• Using an extensive Amish pedigree, we have mapped the Mast syndrome locus (SPG21) to a small interval of chromosome 15q22.31 that encompasses just three genes [1].
• Sequence analysis of the three transcripts revealed that all 14 affected cases were homozygous for a single base-pair insertion (601insA) in the acid-cluster protein of 33 kDa (ACP33) gene [1].
• BACKGROUND: Mast cell microlocalisation within the airway smooth muscle (ASM) bundle is an important determinant of the asthmatic phenotype [6].
• METHODS: Mast cell deficient mice (WBB6F1-/-), along with their mast cell sufficient counterparts (WBB6F1+/+), underwent a standardized adhesion-inducing operation (AIS) with subsequent sacrifice and adhesion assessment 14 days later in a blinded fashion [7].
• CONCLUSIONS: Mast cells and VEGF are central to the formation of postoperative intra-abdominal adhesions with mast cells being responsible, either directly or indirectly, for VEGF release into the peritoneal cavity after operation [7].

Biological context of SPG21

• Some similarity of clinical symptoms and MRI patterns with the phenotype of Mast syndrome prompted a mutation analysis of the SPG21 gene, encoding maspardin, which revealed a wild-type sequence in both patients [8].
• RESULTS: Mast cell, eosinophil, and IgE+ cell numbers were significantly raised in patients with AFS, NEFS, and CRS when compared with controls [9].
• The genetic diversity of ten natural populations of PICEA ASPERATA Mast. were studied using RAPD markers [10].

Associations of SPG21 with chemical compounds

• Systems evaluated included Masta-Staph (Mast Diagnostics), Staphylase-Test (Oxoid), Staphytect-Plus (Oxoid), Staphyloslide Latex (Becton Dickinson), Slidex Staph Plus (bioMerieux) and Dry Spot Staphytect Plus (Oxoid) [11].
• The Mast cell Function-associated Antigen (MAFA) is a membrane glycoprotein on rat mast cells (RBL-2H3) expressed at a ratio of approximately 1:30 with respect to the Type I Fcepsilon receptor (FcepsilonRI) [12].

Analytical, diagnostic and therapeutic context of SPG21

• MATERIAL: Mast cell containing cell suspensions were obtained from porcine lung, liver, kidneys and heart, as well as rat lung and rat peritoneal lavage [13].

References