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Related Concept Videos

Fixing Double-strand Breaks02:04

Fixing Double-strand Breaks

The double-stranded structure of DNA has two major advantages. First, it serves as a safe repository of genetic information where one strand serves as the back-up in case the other strand is damaged. Second, the double-helical structure can be wrapped around proteins called histones to form nucleosomes, which can then be tightly wound to form chromosomes. This way, DNA chains up to 2 inches long can be contained within microscopic structures in a cell. A double-stranded break not only damages...
Fixing Double-strand Breaks02:04

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The double-stranded structure of DNA has two major advantages. First, it serves as a safe repository of genetic information where one strand serves as the back-up in case the other strand is damaged. Second, the double-helical structure can be wrapped around proteins called histones to form nucleosomes, which can then be tightly wound to form chromosomes. This way, DNA chains up to 2 inches long can be contained within microscopic structures in a cell. A double-stranded break not only damages...
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Bacterial meningitis typically begins when pathogens such as Neisseria meningitidis and Streptococcus pneumoniae colonize the nasopharynx and invade the bloodstream. This process is facilitated by bacterial virulence factors, such as polysaccharide capsules, which resist phagocytosis and complement-mediated killing. Less commonly, bacteria reach the central nervous system via contiguous spread from infections like otitis media or sinusitis, through congenital or acquired dural defects, or...
Nondisjunction01:29

Nondisjunction

During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
Nondisjunction01:21

Nondisjunction

Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers.  Nondisjunction is common during anaphase I or anaphase II of meiosis.  Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold sister...
Nondisjunction01:29

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Related Experiment Video

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Pseudofracture: An Acute Peripheral Tissue Trauma Model
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Published on: April 18, 2011

Nijmegen breakage syndrome.

Irina Kondratenko1, Olga Paschenko, Alexandr Polyakov

  • 1Russian Clinical Children's Hospital, Institute for Clinical Genetics, Moscow, Russia. ikondratenko@rambler.ru

Advances in Experimental Medicine and Biology
|August 24, 2007
PubMed
Summary

Nijmegen breakage syndrome (NBS) is a rare genetic disorder. Most patients share a common NBS1 gene mutation, leading to characteristic clinical and immunological features.

Area of Science:

  • Genetics
  • Immunology
  • Pediatrics

Background:

  • Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disorder.
  • NBS is characterized by microcephaly, growth retardation, immunodeficiency, chromosome instability, radiation sensitivity, and lymphoid malignancy predisposition.
  • The NBS1 gene, located on chromosome 8q21, encodes the nibrin protein (p95) and is implicated in NBS pathogenesis.

Purpose of the Study:

  • To analyze literature and present clinical, immunological, and genetic findings in 21 Nijmegen breakage syndrome patients.
  • To investigate the prevalence of the 657del5 mutation in the NBS1 gene among evaluated patients.

Main Methods:

  • Literature review.
  • Clinical evaluation of patients.
  • Immunological assessment.

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  • Genetic analysis of the NBS1 gene, focusing on the 657del5 mutation.

    • Main Results:

    • The 657del5 mutation in the NBS1 gene was identified in the majority of evaluated NBS patients.
    • Detailed clinical and immunological features of the 21 NBS patients were documented.

    Conclusions:

    • The 657del5 mutation is a common genetic cause of Nijmegen breakage syndrome.
    • Comprehensive clinical and immunological data provide insights into NBS manifestations and management.