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Genetics

X-linked
ADRENOLEUKODYSTROPHY
Maitane Gezala
Josune Etxabe
ABCD1: “ATP-binding cassette, sub-family D (ALD), member 1.”
GENE AND PROTEIN INVOLVED
Mutation in the ABCD1 gene:
  •  ALDP is not produced.
  •  Protein is produced, not functional.
  •  Little function of ALDP.
    • apoptosis of microglia in brain
    • depolarization of mitocondria
    • deregulation of intracelular calcium homeostasis
    • oxidative damage to proteins
CONSEQUENCES
accumulation of VLCFA
demyelination
adrenocortical insufficiency
CHARACTERISTICS
variety of ages
 different manifestations
neither the genetic mutation nor the level of biochemical abnormality predicts the phenotypic presentation
The relevant figure for the incidence is 1:16,800.
Thus, X-ALD is both the most frequent monogenetically inherited demyelinating disorder and the most frequent peroxisomal disorder.
1.ADRENOMYELONEUROPATHY
  •  The most common form of X-ALD.
  •  30-40 years of age and normal life expectancy.
  •  Slow and progressive injury to spinal cord and nerves.
  •  Approximately 70% of AMN patients also have Addison’s disease and/or testicular insufficiency.

NO EFFECTIVE TREATMENTS FOR AMN.
Muscle stiffness --> treated individually.
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