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Impact of D-bifunctional Protein Deficiency on Telomere Length and Gene Expression in a Child

Marta Elena Hernández-Caballero, Diego Julio Arenas-Aranda, Raquel Chávez-Torres, José Alfredo Sierra-Ramírez, Calzada-Mendoza Claudia Camelia

Journal of Advances in Medicine and Medical Research · pp. 351–360 · Published 13 Feb 2013

10.9734/BJMMR/2013/2614

Abstract

Aim: To explore, in one patient, the possibility that D-bifunctional protein (D-BP) deficiency affects telomere length, and to determine the profile of genetic expression. Presentation of Case: Due to the symptoms of a newborn and his family background, a peroxisomal panel was performed. There were high levels of very long chain fatty acids and abnormal peroxisomes. At 8 months the patient exhibited other complications, including progressive multi systemic deterioration, and at 15 months died of pneumonia. Discussion: Analysis of the patient’s fibroblasts provided evidence of a defect in the peroxisomes and in the oxidation of fatty acids, leading to a diagnosis of D-BP deficiency. Significant alterations were found in the genetic expression profile, with the greatest number of affected genes involved in neuronal functions, two implicated in peroxisomal biogenesis, and some others related to telomere protection and DNA repair. The child had a mixture of very short and normal length telomeres, a condition commonly observed in the elderly and in individuals with chronic degenerative diseases. Conclusion: The abnormal function of peroxisomes and altered gene expression found in the patient under study could explain the affected telomere length. Further studies are needed to explore this possibility.

D-bifunctional protein deficiency gene expression telomere length peroxisomes

References (19)

  1. 1 Biogenesis of Peroxisomes [DOI]
  2. 2 Peroxisomes and oxidative stress [DOI]
  3. 3 TELOMERES AND THEIR CONTROL [DOI]
  4. 4 Crucial role of a long-chain fatty acid elongase, Elovl6, in obesity-induced insulin resistance [DOI]
  5. 5 Accumulation of single-strand breaks is the major cause of telomere shortening in human fibroblasts [DOI]
  6. 6 Axonal loss and neuroinflammation caused by peroxisome-deficient oligodendrocytes [DOI]
  7. 7 Clinical and biochemical spectrum of D‐bifunctional protein deficiency [DOI]
  8. 8 A synopsis of the process of lipid peroxidation since the discovery of the essential fatty acids [DOI]
  9. 9 Inactivation of the Peroxisomal Multifunctional Protein-2 in Mice Impedes the Degradation of Not Only 2-Methyl-branched Fatty Acids and Bile Acid Intermediates but Also of Very Long Chain Fatty Acids [DOI]
  10. 10 Identification of the peroxisomal β-oxidation enzymes involved in the degradation of long-chain dicarboxylic acids [DOI]
  11. 11 The Membrane Biogenesis Peroxin Pex16p [DOI]
  12. 12 Mouse models for peroxisome biogenesis defects and β-oxidation enzyme deficiencies [DOI]
  13. 13 Peroxisome biogenesis and peroxisome biogenesis disorders [DOI]
  14. 14 Molecular basis of d-bifunctional protein deficiency [DOI]
  15. 15 Peroxisome Biogenesis: End of the Debate [DOI]
  16. 16 The interaction between human PEX3 and PEX19 characterized by fluorescence resonance energy transfer (FRET) analysis [DOI]
  17. 17 Clinical consequences of defects in peroxisomal β-oxidation [DOI]
  18. 18 Analysis of Mammalian Telomere Position Effect [DOI]
  19. 19 [Peroxisomal D-bifunctional enzyme deficiency. A case report].

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