[Clinical and molecular aspects of peroxisome-deficient disorders].
Peroxisome-deficient disorders including Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) are characterized by the absence of peroxisomes associated with secondary multiple enzyme deficiencies and by a defect in the neuronal migration. Collaborative complementation studies revealed the presence of at least 9 genetic groups among these disorders. Clinical phenotypes did not correlate with the genetic grouping. Responsible gene for one of these groups (group F) was determined as peroxisome assembly factor-1 (PAF-1) by the functional cloning using peroxisome-deficient CHO cell mutant. A patient of group F was a homozygote with C to T transitions in PAF-1 gene which resulted in a nonsense mutation. These results will pave the way for the elucidation of mechanisms of peroxisome biogenesis and the pathophysiology of neuronal migration.
Suzuki
Y
Y
Department of Pediatrics, Gifu University School of Medicine.
Shimozawa
N
N
Orii
T
T
D000326:Adrenoleukodystrophy / Q000209:etiology / Q000235:genetics*; D000595:Amino Acid Sequence; D000818:Animals; D016466:CHO Cells; D003001:Cloning, Molecular; D006224:Cricetinae; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008565:Membrane Proteins / Q000737:chemistry / Q000235:genetics*; D008830:Microbodies; D008969:Molecular Sequence Data; D009154:Mutation; D000074428:Peroxisomal Biogenesis Factor 2; D012035:Refsum Disease / Q000209:etiology / Q000235:genetics*; D015211:Zellweger Syndrome / Q000209:etiology / Q000235:genetics*
D008565:Membrane Proteins; D000074428:Peroxisomal Biogenesis Factor 2