Editorial: Idiopathic cardiac hypertrophy--a treacle well?
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Angiocardiography↗
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Pharyngeal pump and esophageal transit.
In deglutition the pharynx appears to act as a pump to "inject" boluses into the esophagus. A new method for measuring the velocity profile of the leading edge of a radionuclide bolus has been developed and applied to boluses of different viscosity--water and treacle--in nine normal volunteers. The results show that the more viscous bolus (treacle) acquires a slower initial "injection" velocity (152 mm/sec vs 236 mm/sec) that only propels it over the proximal half of the esophagus. Peristaltic action must drive the bolus over the distal half. With water boluses, however, the higher initial velocity is sufficient to propel a part of the bolus at least to the gastroesophageal junction leaving minimal "work" to be performed by esophageal peristalsis. This confirms the important role of the pharyngeal pump in deglutition. The pump may be the major mechanism for ingestion of nonviscous liquids (water), peristalsis merely being required to "sweep up" what remains in the esophagus.
Deglutition↗
Novel TCOF1 Frameshift Variant and Phenotypic Heterogeneity in a Chinese Family With Treacher Collins Syndrome.
BACKGROUND: Treacher Collins syndrome (TCS) is a congenital craniofacial disorder characterized by malar and mandibular hypoplasia, downward-slanting palpebral fissures, and conductive hearing loss. Pathogenic variants in TCOF1 account for most cases, with POLR1D, POLR1C, and POLR1B also implicated. METHODS: Whole-exome sequencing was performed in a two-generation Chinese family with TCS, followed by Sanger sequencing validation. Clinical features were systematically evaluated, and bioinformatic analyses combined with structural modeling were employed to assess the potential pathogenicity of the identified variant. RESULTS: In this study, a novel heterozygous frameshift variant in TCOF1 (NM_001371623.1:c.1601_1602delCC, p.Pro534Leufs*15) was identified in the proband and his affected father. The proband presented classic TCS features including craniofacial skeletal hypoplasia, downward-slanting palpebral fissures, and conductive hearing loss. He also carried a right-sided preauricular fistula, a nonclassical feature of TCS. The same variant was detected in his affected father with a substantially milder phenotype, indicating marked intrafamilial phenotypic variability. Bioinformatic analysis and structural modeling predicted that this variant produces a severely truncated Treacle protein lacking key functional domains, which is predicted to disrupt nucleolar localization and ribosome biogenesis. CONCLUSION: Our findings expand the variant spectrum of TCOF1, highlight phenotypic heterogeneity in TCS, and reinforce the critical role of molecular diagnosis in distinguishing TCS from phenotypically overlapping craniofacial syndromes.
Humans↗
sn-Glycerol-3-phosphate oxidase and alcohol tolerance in Drosophila melanogaster larvae.
The role of sn-glycerol-3-phosphate oxidase (GPO; EC 1.1.99.5) in the variation of ethanol tolerance in Drosophila melanogaster was assessed in isofemale lines derived from individuals collected at the Chateau Tahbilk Winery and Wandin North Orchard of Victoria, Australia. When fed an undefined medium (semolina-treacle) with 6% ethanol (v/v), larvae of lines with high GPO activities survived better than did larvae of lines with low GPO activities. Although GPO was induced to higher activity levels by dietary ethanol in larvae of all the test lines, GPO activity was greater in lines representing the area outside the wine cellar. This implied that the cellar environment selected against individuals with high levels of GPO. These data do not explain the established difference in tolerance between cellar and outside populations. The GPO activities of lines were not dependent upon the activities of the lipogenic enzyme, glycerol-3-phosphate dehydrogenase; the major ethanol-degrading enzyme, alcohol dehydrogenase; or the citric acid cycle enzyme, fumarase. Thus, GPO activity is an important component of the metabolic mechanism of ethanol tolerance in larvae, but the mode of action of GPO has not been defined.
Alcohol Dehydrogenase↗
Chromosome-specific epigenetic control and transmission of ribosomal DNA arrays in Hominidae genomes.
Ribosomal RNA (rRNA) genes are organized in tandem arrays known as ribosomal DNA (rDNA) on multiple chromosomes in Hominidae genomes. We measured copy number and transcriptional activity status of rRNA gene arrays across multiple individual genomes, revealing an identifiable fingerprint of rDNA copy number and activity. In some cases, entire arrays were transcriptionally silent, characterized by high DNA methylation across the rRNA gene, inaccessible chromatin, and the absence of transcription factors and transcripts. Silent arrays showed reduced association with the nucleolus and decreased interchromosomal interactions, consistent with the model that nucleolar organizer function depends on transcriptional activity. Removing rDNA methylation activated silent arrays. Array activity status remained stable through induced pluripotent stem cell reprogramming and differentiation into cerebral and intestinal organoids. Haplotype tracing in two unrelated family trios showed paternal transmission of silent arrays. We propose that the epigenetic state buffers rRNA gene dosage, specifies nucleolar organizer function, and can propagate transgenerationally.
Epigenesis, Genetic↗