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Protein Families02:47

Protein Families

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Protein families are groups of homologous proteins; that is, they have similarities in amino acid sequences and three-dimensional structures. Protein families usually occur because of gene duplication, where an additional copy of a gene is inserted into the genome of an organism.   Mutations that change the amino acids but still allow the protein to be properly synthesized, will lead to new protein family members.   If these new proteins contain similar amino acids in key...
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Gene families consist of groups of genes proposed to have originated from a common ancestor. Typically these arise through events in which a gene or genes are mistakenly duplicated during cell division. Unlike their parent genes (which are subject to selection pressure to maintain function), these gene copies do not need to preserve their sequences and may evolve at a relatively faster rate.
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Amyloid fibrils are aggregates of misfolded proteins.  Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils. 
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Familial Amyloid Polyneuropathy.

Arman Çakar1, Hacer Durmuş-Tekçe1, Yeşim Parman1

  • 1Department of Neurology, İstanbul Faculty of Medicine, İstanbul University, İstanbul, Turkey.

Noro Psikiyatri Arsivi
|June 22, 2019
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Summary
This summary is machine-generated.

Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) is a severe condition from TTR protein buildup. New treatments like TTR stabilizers and gene silencing drugs offer hope for managing TTR-FAP progression.

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Area of Science:

  • Neurology
  • Genetics
  • Molecular Biology

Background:

  • Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) is a progressive, life-threatening disease.
  • Caused by the accumulation of misfolded transthyretin (TTR) protein, leading to amyloid deposits in tissues.
  • Clinical presentation of TTR-FAP varies, particularly between endemic and non-endemic regions.

Purpose of the Study:

  • To outline the diagnostic criteria for TTR-FAP.
  • To discuss the variability in clinical manifestations.
  • To review current and emerging therapeutic strategies for TTR-FAP.

Main Methods:

  • Genetic testing of the TTR gene is essential for diagnosis.
  • Tissue biopsy may be required to confirm amyloid deposits.
  • Systemic involvement is assessed through comprehensive follow-up tests.

Main Results:

  • TTR gene mutations destabilize the TTR protein, promoting amyloid formation.
  • Diagnosis relies on genetic confirmation and, if necessary, tissue analysis.
  • Effective treatments now exist to halt disease progression.

Conclusions:

  • Early diagnosis and treatment initiation are crucial for better patient outcomes.
  • TTR stabilizers and gene-silencing therapies are effective in managing TTR-FAP.
  • Ongoing research into novel therapies, including monoclonal antibodies, shows promise.