Abstract
ObjectiveTo investigate the differences in gene expression between children and adults with Kashin-Beck disease (KBD).Methods12 children with KBD and 12 healthy children were selected and divided into 4 KBD vs. control pairs matched according to age and gender, with each pair having 3 KBD children and 3 healthy children. Additionally, 15 adults with KBD and 15 healthy adults were selected and divided into 5 KBD vs. control pairs matched according to age and gender, with each pair having 3 KBD adults and 3 healthy adults. Total RNA was isolated from peripheral blood mononuclear cells (PBMCs) respectively. A total of 367 target genes were selected based on previous genome-wide gene expression profile analysis. Expression levels of the 367 genes were evaluated by customized oligonucleotide microarray and the differentially expressed genes were identified. Quantitative real-time reverse transcription polymerase chain reaction (qRT-PCR) was conducted to validate the microarray data.ResultsA total of 95 (25.9%) genes in KBD children and 158 (43.1%) genes in KBD adults were found to exhibit more than two-fold change in gene expression level relative to healthy controls. By comparing differentially expressed genes identified in KBD children to those of KBD adults, 42 genes were found to be differentially expressed only in KBD children. And 105 genes were found to be differentially expressed only in KBD adults. Further, 16 differentially expressed genes common to both KBD children and adults were found to be asynchronously expressed in KBD children compared to KBD adults.ConclusionSignificant differences in gene expression pattern were identified between KBD children and KBD adults, indicating different molecular mechanisms underlying cartilage lesions of KBD children and KBD adults. In addition, bone development-related genes GDF5 (expression ratio = 2.14±0.02) and DIO2 (expression ratio = 0.11±0.05) may contribute to the development of KBD in children rather than in adults.
Highlights
Kashin-Beck disease (KBD) is an endemic and chronic osteochondropathy with unknown etiology
KBD is characterized by focal chondronecrosis in the mature chondrocytes of articular cartilage and the growth plate cartilage, which can result in impaired endochondral ossification during childhood [3]
The primary radiographic changes seen in KBD children are metaphyseal lesions in phalanges, including a cone-shaped and blurred margin of the epiphysis, and abnormal closure of the epiphyseal line from the center (Figure 2C)
Summary
Kashin-Beck disease (KBD) is an endemic and chronic osteochondropathy with unknown etiology. The disease mostly occurs in children between the ages of 3 and 13 in a diagonal beltlike area ranging from Northeast to Southwest China, with no observed difference in occurrence between genders. Few new KBD patients are observed among adolescents and adults [1]. It has been reported that more than 2.5 million people in China suffer from KBD and about 30 million people are at risk. KBD is characterized by focal chondronecrosis in the mature chondrocytes of articular cartilage and the growth plate cartilage, which can result in impaired endochondral ossification during childhood [3]. The premature closure of the epiphyseal plate in KBD children leads to irregular and impaired skeletal development. Secondary osteoarthritis becomes the primary clinical manifestation of adult KBD patients
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