Objective: To determine the sequence variation of the groups 1 and 2 allergens from Dermatophagoides pteronyssinus and Dermatophagoides farinae in different geographical regions.
Methods: RNAs were isolated from the whole bodies, eggs and entire culture of mites (D. farinae) from South China and European commercialized D. pteronyssinus and D. farinae. Sequences of prepeptide, propeptide and mature peptide fragments in group 1, and prepeptide and mature peptide fragments in group 2 were determined from cDNA produced by PCR. All the sequences were compared with the corresponding standards in GenBank.
Results: Der p 1.0105 was the major variant found in European commercialized Der p 1 clones, where amino acid variations appeared sporadic, except for frequent substitutions shown in residues 124, 50 and 19, and eight novel homologous variants were identified. Derp 2.0104 was mostly detected in clones from European commercialized Der p 2, where amino acid substitutions were predominant in residues 40, 47, 111 and 114, and six novel homologous variants were identified. Very few amino acid sequence substitutions were found among South China based Der f 1 clones, where three novel homologous variants were identified. As compared with European commercialized ones, a number of homologous variants were recognized unique to South China based Der f 2 clones where six novel homologous variants were identified. There was no significant difference in major allergens among variants from the whole mite bodies, eggs or the entire culture.
Conclusion: There is a difference among the predominant variants of major house dust mite allergens in different geographical regions.
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Parkinsonism Relat Disord
December 2024
Department of Neurology and Institute of Neurology, Shanghai Jiao Tong University Medical School Affiliated Ruijin Hospital, Shanghai, China. Electronic address:
Introduction: The SNP rs2414739 of Vacuolar protein sorting 13 homolog C(VPS13C) gene was identified to be linked with Parkinson's Disease (PD).
Objectives: Explore the clinical progression feature of PD patients with rs2414739 variant.
Methods: Longitudinal data were obtained from the Parkinson's Progression Marker Initiative (PPMI) cohorts.
Alzheimers Dement
December 2024
Amsterdam UMC location VUmc, Amsterdam, Noord-holland, Netherlands.
Background: SORL1 encodes the retromer-associated receptor SORLA that functions in endosomal recycling. Rare variants in SORL1 have been associated with Alzheimer's disease (AD) and rare pathogenic variants are estimated to occur in up to 2.75% of early onset AD patients and in 1.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Vanderbilt University Medical Center, Nashville, TN, USA.
Background: Genome-wide association studies suggest mutations in endolysosomal genes are linked to Alzheimer's disease (AD). Defective lysosomal function has been corroborated as a feature of AD by neuropathological and cell biology studies. PLD3 is a homolog of the phospholipase D family localized to lysosomes.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
National Center for Geriatrics and Gerontology, Obu, Aichi, Japan.
Background: Dementia with Lewy bodies (DLB) is the second most common form of degenerative dementia in older people. The clinical feature of DLB includes cognitive impairment, visual hallucinations, parkinsonism, and fluctuating attention. Three genes, SNCA (-synuclein), APOE (apolipoprotein E), and GBA (glucosylceramidase), have been convincingly demonstrated to be associated with DLB.
View Article and Find Full Text PDFMol Genet Genomic Med
January 2025
Department of General Surgery, The Fourth Affiliated Hospital, China Medical University, Shenyang, Liaoning, China.
Background: Lynch syndrome (LS) is an autosomal-dominant disorder that increases the risk of many cancers. To identify novel or rare pathogenic variants of MMR genes associated with LS, especially in Chinese pedigrees.
Methods: One four-generation Chinese Han family from northeast China with 29 members was enrolled.
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