Disease relevance of PMPS

• PMPS is a disorder of childhood characterized by refractory anemia, vacuolization of bone marrow cells, and exocrine pancreas dysfunction [1].
• Polymorphic membrane protein (Pmp)21 otherwise known as PmpD is the longest of 21 Pmps expressed by Chlamydophila pneumoniae [2].
• We used a dual-color fluorescence in situ hybridization technique to estimate deleted mitochondrial DNA at a single-cell level and determine any correlation with the disease progression in lymphocytes from patients with Pearson marrow-pancreas syndrome [3].
• Pearson marrow-pancreas syndrome is a usually fatal disorder that involves the hematopoietic system, exocrine pancreas, liver, kidneys, and often presents clinically with failure to thrive [4].
• Prenatal manifestation of pancytopenia in Pearson marrow-pancreas syndrome caused by a mitochondrial DNA deletion [5].

High impact information on PMPS

• The Pearson marrow-pancreas syndrome (MIM 557000) is a disorder involving the hematopoietic system and the exocrine pancreas in early infancy [6].
• Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome [6].
• In this study, we have incorporated two Pmps into the phosphorylation sites simultaneously and examined the effects of double SHP-2 tyrosine phosphorylation [7].
• Fluorescence in situ hybridization analysis of peripheral blood cells in Pearson marrow-pancreas syndrome [3].
• Kearns-Sayre syndrome (KSS) and Pearson's marrow-pancreas syndrome (PMPS) are rare disorders caused by the same molecular defect, one of several deletion mutations in mitochondrial DNA (mtDNA) [1].

Biological context of PMPS

• Children with PMPS that have a mild phenotype, or are supported through bone marrow failure, often develop the encephalomyopathic features of KSS [1].
• Site-specific deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome [8].
• We describe a family in which the mother has progressive external ophthalmoplegia with the common 4977 base pair deletion, and her son has a syndrome similar to the Pearson marrow-pancreas syndrome with the identical deletion [9].

Other interactions of PMPS

• Identical mitochondrial DNA deletion in mother with progressive external ophthalmoplegia and son with Pearson marrow-pancreas syndrome [9].

Analytical, diagnostic and therapeutic context of PMPS

• In the present study, the expression, processing and localisation of the sixteen full-length Pmps in C. pneumoniae strain CWL029 have been further investigated by two-dimensional gel electrophoresis and immunofluorescence microscopy [10].

References