Child Neurology: Progressive Cerebellar Atrophy and Retinal Dystrophy: Clues to an Ultrarare ACO2-Related Neurometabolic Diagnosis.

Pathogenic biallelic variants in ACO2, which encodes the enzyme mitochondrial aconitase, are associated with the very rare diagnosis of ACO2-related infantile cerebellar retinal degeneration (OMIM 614559). We describe the diagnostic odyssey of a 4-year-old female patient with profound global developmental delays, microcephaly, severe hypotonia, retinal dystrophy, seizures, and progressive cerebellar atrophy. Whole-exome sequencing revealed 2 variants in ACO2; c.2105_2106delAG (p.Gln702ArgfsX9), a likely pathogenic variant, and c.988C>T (p.Pro330Ser) which was classified as a variant of uncertain significance (VUS). While the VUS was confirmed to be maternally inherited, the phase of the other variant could not be confirmed due to lack of a paternal sample. Functional biochemical studies were performed on a research basis to clarify the interpretation of the VUS, which enabled clinical confirmation of the diagnosis of ACO2-related infantile cerebellar retinal degeneration for our patient.

Sensory profile of pulse-based high moisture meat analogs: A study on the complex effect of germination and extrusion processing.

Germination and extrusion are two processes that could affect beany flavors in pulse-based high-moisture meat analogs (HMMAs). This research studied the sensory profile of HMMAs made by protein-rich flours from germinated/ungerminated pea and lentil. Air-classified pulse protein-rich fractions were processed into HMMAs with twin screw extrusion cooking, optimized at 140 °C (zone 5 temperature) and 800 rpm screw speed. Overall, 30 volatile compounds were identified by Gas Chromatography-Mass Spectrometry/Olfactory. Chemometric analysis exhibited that the extrusion markedly (p < 0.05) reduced beany flavor. A synergistic effect of germination and extrusion process was observed, decreasing some beany flavors such as 1-octen-3-ol and 2,4-decadienal, and the overall beany taste. Pea-based HMMAs are suitable for lighter, softer poultry meat, while lentil-based HMMAs are suited for darker, harder livestock meat. Those findings offer novel insights into the regulation of beany flavors, odor notes, color, and taste to improve the sensory quality of HMMAs.

ß-Glucuronidase activity in seedlings of the parasitic angiosperm Cusctua pentagona: developmental impact of the ß-glucuronidase inhibitor saccharic acid 1,4-lactone.

Endogenous plant ß-glucuronidase (ß-GUS) activity was detected in germinating seeds, seedlings, stems, flowers and haustoria of the parasitic angiosperm Cuscuta pentagona Engelm. In vitro characterisation of this activity showed it to have an acidic pH optimum, similar to previously characterised plant activities, and a sensitivity to the ß-GUS inhibitor saccharic acid 1,4-lactone (SAL). Application of SAL to seeds immediately after chemical scarification resulted in a significant developmental delay and, frequently, in the total arrest of seedling growth. In contrast, application of SAL subsequent to the emergence of the radicle did not produce a significant effect on the development of the seedling. Thus, the distribution of activity and the developmentally contingent potency of SAL in inhibiting growth suggest a role for ß-GUS at an early stage of seed germination or seedling growth. Further, the inability of the inhibitor to prevent subsequent shoot elongation suggests that at least some plant growth processes do not require this activity, or that it is required only at minimal levels and is unaffected by the application of SAL.