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Regional differences and similarities of FAP in Sweden

Urban Hellman1, Ole Suhr

  • 1Department of Public Health and Clinical Medicine, Umeå University, Umeå, Sweden. urban.hellman@medicin.umu.se

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis
|April 4, 2012
PubMed

Insights

Familial amyloid polyneuropathy (FAP) phenotypes vary within Sweden due to the TTR V30M mutation. Differences in onset age and complications may be linked to mitochondrial factors.

Area of Science:

  • Genetics and Neurology
  • Molecular Biology

Background:

  • Familial amyloid polyneuropathy (FAP) exhibits significant phenotypic variability, even within populations sharing the TTR V30M mutation.
  • The TTR V30M mutation's origin in Sweden is distinct from Portugal's, suggesting independent occurrences.
  • Phenotypic differences in Swedish FAP patients are observed geographically, with earlier onset in Skellefteå compared to Piteå.

Purpose of the Study:

  • To investigate the causes of phenotypic heterogeneity in Swedish familial amyloid polyneuropathy (FAP) populations.
  • To explore the relationship between age at onset, disease complications, and genetic factors like mitochondrial haplotypes.

Main Methods:

  • Comparative analysis of FAP patient phenotypes across different regions in northern Sweden.
  • Investigation of TTR V30M mutation origins and distribution.
  • Analysis of mitochondrial haplotype distribution in relation to patient demographics and clinical presentation.

Main Results:

  • Significant differences in age at onset (average 20 years earlier in Skellefteå vs. Piteå) were observed within the Swedish FAP population.
  • Late-onset FAP cases, particularly in males, are associated with cardiomyopathy.
  • Distinct mitochondrial haplotype distributions were found between early- and late-onset FAP patients.

Conclusions:

  • Geographic and temporal factors influence FAP phenotype in Sweden.
  • Mitochondrial function and haplotype variations are potential contributors to the observed phenotypic variability and disease complications in FAP.

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