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Related Concept Videos

Pleiotropy01:33

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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
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Glycans, a class of complex heterogeneous molecules, can be covalently attached to proteins to form glycosylated proteins that regulate various physiological and pathological processes. Glycosylated proteins or glycoproteins comprise N-linked and O-linked oligosaccharides. O-glycosylation is the most common type of protein glycosylation. Here, glycans attach to the oxygen atom of the hydroxyl groups of Serine or Threonine residues. O-linked glycosylation occurs later in protein processing,...
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Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
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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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Updated: Sep 21, 2025

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The polyG diseases: a new disease entity.

Tongling Liufu1, Yilei Zheng2, Jiaxi Yu1

  • 1Department of Neurology, Peking University First Hospital, Beijing, China.

Acta Neuropathologica Communications
|June 1, 2022
PubMed
Summary
This summary is machine-generated.

Expanded CGG repeats cause polyglycine (polyG) diseases, including FXTAS, NIID, OPML, and OPDMs. This review explores their shared features, mechanisms, and potential therapies for polyG diseases.

Keywords:
Fragile X-associated tremor/ataxia syndromeNeuronal intranuclear inclusion diseaseOculopharyngeal myopathy with leukoencephalopathyOculopharyngodistal myopathyPolyG diseases

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Area of Science:

  • Neurology
  • Genetics
  • Pathology

Background:

  • Fragile X-associated tremor/ataxia syndrome (FXTAS) shares clinical and pathological features with other neurodegenerative disorders.
  • Abnormal CGG repeat expansion in the 5' untranslated region is implicated in FXTAS, neuronal intranuclear inclusion disease (NIID), oculopharyngeal myopathy with leukoencephalopathy (OPML), and oculopharyngodistal myopathies (OPDMs).

Purpose of the Study:

  • To review the common clinical manifestations, pathological features, and underlying mechanisms of polyglycine (polyG) diseases.
  • To discuss potential therapeutic strategies and future research directions for these emerging disorders.

Main Methods:

  • Literature review of studies on FXTAS, NIID, OPML, and OPDMs.
  • Analysis of shared genetic (CGG repeat expansion) and molecular (polyglycine translation) pathogenesis.

Main Results:

  • Polyglycine (polyG) translated from expanded CGG repeats is a primary pathogenic factor in FXTAS and NIID.
  • While the upstream open reading frame is unelucidated in OPML and OPDMs, the polyG mechanism is suspected.

Conclusions:

  • These findings collectively define a new disease entity: polyG diseases.
  • Further research is needed to fully elucidate mechanisms and develop targeted therapies for polyG diseases.