Published January 1, 2023 | Version v1
Journal article Open

Heterozygous<i> Cc2d1a</i> mice show sex-dependent changes in the Beclin-1/ p62 ratio with impaired prefrontal cortex and hippocampal autophagy

  • 1. Cappodoccia Univ, Cappadocia Vocat Sch, Med Lab Tech Programme, Nevsehir, Turkiye
  • 2. Erciyes Univ, Genome & Stem Cell Ctr GENKOK, TR-38039 Kayseri, Turkiye
  • 3. Bozok Univ, Med Fac, Dept Histol & Embryol, TR-66100 Yozgat, Turkiye

Description

Autism Spectrum Disorders (ASD) are a group of neurodevelopmental disorders characterized by repetitive behaviors, lack of social interaction and communication. CC2D1A is identified in patients as an autism risk gene. Recently, we suggested that heterozygous Cc2d1a mice exhibit impaired autophagy in the hippocampus. We now report the analysis of autophagy markers (Lc3, Beclin and p62) in different regions hippocampus, prefrontal cortex, hypothalamus and cerebellum, with an overall decrease in autophagy and changes in Beclin-1/p62 ratio in the hippocampus. We observed sex-dependent variations in transcripts and protein expression levels. More-over, our analyses suggest that alterations in autophagy initiated in Cc2d1a heterozygous parents are variably transmitted to offspring, even when the offspring's genotype is wild type. Aberration in the autophagy mecha-nism may indirectly contribute to induce synapse alteration in the ASD brain.

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