Choline Kinase Beta–Related Muscular Dystrophy, Appearance of Muscle Involvement on Magnetic Resonance Imaging

Goede, Christian de; Oh, Teik Chooi; Joseph, Jacob; Muntoni, Francesco; Sewry, Caroline A.; Phadke, Rahul

doi:10.1016/j.pediatrneurol.2015.09.018

Cited by 7 publications

(1 citation statement)

References 8 publications

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“…Choline kinase α inhibitors can inhibit tumor growth [4], and in fibroblast-like synoviocytes cultured from rheumatoid arthritis patients they suppress cell migration and resistance to apoptosis features that contribute to cartilage destruction [5]. The inventors present in vitro data for many new inhibitors that are up to 100-fold selective against the β isoform (IC 50 values in the mid-nanomolar range for α and in the low micromolar range for β), which is important because the fact that genetic choline kinase β deficiency causes muscular dystrophy suggests that its inhibition might lead to muscle and bone problems [6].…”

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confidence: 99%

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Mucke¹

2018

Pharm. Pat. Anal.

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confidence: 99%

Patent Highlights February–March 2018

Mucke¹

2018

Pharm. Pat. Anal.

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Large heterozygous deletion and uniparental disomy masquerading as homozygosity inCHKBgene

Zhang

et al. 2023

Molec Gen & Gen Med

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Background CHKB mutations have been described in 49 patients with megaconial congenital muscular dystrophy, which is a rare autosomal recessive disorder, of which 40 patients showed homozygosity. Methods Peripheral blood genomic DNA samples were extracted from patients and their parents and were tested by whole exome sequencing. Quantitative PCR was performed to detect deletion. Single nucleotide polymorphism analysis was performed to identify uniparental disomy. Quantitative PCR and western blot were used to measure the expression level of CHKB in patient 1‐derived immortalized lymphocytes. Mitochondria were observed in lymphocytes by electron microscopy. Results Two unrelated cases born to non‐consanguineous parents were diagnosed with megaconial congenital muscular dystrophy due to apparently homozygous mutations (patient 1: c.225‐2A>T; patient 2: c.701C>T) in the CHKB gene using whole exome sequencing. Quantitative PCR revealed that patient 1 had a large deletion encompassing the CHKB gene, inherited from the mother. Single nucleotide polymorphism analysis revealed patient 2 had paternal uniparental isodisomy containing the CHKB gene. In the immortalized lymphocytes from patient 1, decreased expression of CHKB was revealed by quantitative PCR and western blot, and giant mitochondria were observed using electron microscopy. Conclusion We provide a possibility to detect giant mitochondria in other cells when muscle was not available. Moreover, clinicians should be aware that homozygous variants can be masqueraded by uniparental disomy or large deletions in offspring of non‐consanguineous parents, and excessive homozygosity may be misdiagnosed.

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Metabolic Myopathies II

2020

Muscle Biopsy

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Choline Kinase Beta–Related Muscular Dystrophy, Appearance of Muscle Involvement on Magnetic Resonance Imaging

Cited by 7 publications

References 8 publications

Patent Highlights February–March 2018

Patent Highlights February–March 2018

Large heterozygous deletion and uniparental disomy masquerading as homozygosity inCHKBgene

Metabolic Myopathies II

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