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Genomic Imprinting and Inheritance02:30

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Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
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In 1866, Gregor Mendel published the results of his pea plant breeding experiments, providing evidence for predictable patterns in the inheritance of physical characteristics. The significance of his findings was not immediately recognized. In fact, the existence of genes was unknown at the time. Mendel referred to hereditary units as “factors.”
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Epigenetics is the study of inherited changes in a cell's phenotype without changing the DNA sequences. It provides a form of memory for the differential gene expression pattern to maintain cell lineage, position-effect variegation, dosage compensation, and maintenance of chromatin structures such as telomeres and centromeres. For example, the structure and location of the centromere on chromosomes are epigenetically inherited. Its functionality is not dictated or ensured by the underlying...
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Gregor Mendel's pioneering work on the principles of inheritance fundamentally transformed our understanding of how traits are transmitted from generation to generation. His experiments with pea plants laid the groundwork for the discovery of genes, discrete units within organisms that control heredity.
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A proteome is the entire set of proteins that a cell type produces. We can study proteomes using the knowledge of genomes because genes code for mRNAs, and the mRNAs encode proteins. Although mRNA analysis is a step in the right direction, not all mRNAs are translated into proteins.
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Urinary proteome in inherited nephrolithiasis.

Giovanna Capolongo1, Miriam Zacchia2, Alessandra Perna2

  • 1Chair of Nephrology, Department of Translational Medicine, University of Campania "Luigi Vanvitelli", Naples, Italy. giovi.capolongo@gmail.com.

Urolithiasis
|December 20, 2018
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Proteomics advances our understanding of inherited kidney stone diseases by identifying biological processes and biomarkers. This review highlights recent proteomic findings in monogenic and polygenic nephrolithiasis.

Keywords:
BiomarkerGenetic nephrolithiasisProteomicsUrine

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Area of Science:

  • Nephrology
  • Proteomics
  • Genomics

Background:

  • Proteomics is crucial in nephrology for understanding renal diseases and identifying biomarkers.
  • Inherited nephrolithiasis (INL) presents complex biological processes and requires advanced study.
  • Integrating genomics and proteomics offers a comprehensive mechanistic view of kidney stone disorders.

Purpose of the Study:

  • To review recent proteomic studies on inherited nephrolithiasis.
  • To elucidate biological pathways in various forms of kidney stones.
  • To highlight potential biomarkers and prognostic factors in INL.

Main Methods:

  • Literature review of recent proteomic studies in nephrology.
  • Focus on monogenic forms of nephrolithiasis: cystinuria, Dent's disease, Bartter syndrome, distal renal tubular acidosis, primary hyperoxaluria.
  • Analysis of studies on polygenic hypercalciuria and medullary sponge kidney disease.

Main Results:

  • Proteomic research has significantly expanded knowledge of INL.
  • Identified key biological processes underlying different types of inherited kidney stones.
  • Highlighted the potential of proteomics in discovering disease-specific biomarkers for INL.

Conclusions:

  • Proteomics is a powerful tool for unraveling the complexities of inherited nephrolithiasis.
  • Further proteomic research is essential for biomarker discovery and therapeutic strategies in kidney stone disease.
  • The integration of multi-omics approaches will enhance mechanistic understanding and clinical applications.