Genetic variants of methionine metabolism and X-ALD phenotype generation: results of a new study sample.

Journal of Neurology
Alexander SemmlerMichael Linnebank

Abstract

X-linked adrenoleukodystrophy (X-ALD) is the most common inherited leukodystrophy. Nevertheless, no genotype-phenotype correlation has been established so far. Unidentified modifier genes or other cofactors are suspected to modulate phenotype and prognosis. We recently described polymorphisms of methionine metabolism as possible disease modifiers in X-ALD. To retest these findings, we analyzed 172 new DNA samples of X-ALD patients from different populations (France, Germany, USA, China) by genotyping eight genetic variants of methionine metabolism, including DHFR c.594+59del19bp, CBS c.844_855ins68, MTR c.2756A>G, MTHFR c.677C>T and c.1298A>C, MTRR c.60A>G, RFC1 c.80G>A, and Tc2 c.776C>G. We compared three X-ALD phenotypes: childhood-onset cerebral demyelinating inflammatory type (CCALD; n = 82), adulthood onset with focal cerebral demyelination (ACALD; n = 38), and adulthood onset without cerebral demyelination (AMN; n = 52). The association of genotypes and phenotypes was analyzed with univariate two-sided Pearson's chi(2). In the comparison between AMN and CCALD, the G allele of Tc2 c.776C>G was associated with X-ALD phenotypes (chi(2) = 6.1; P = 0.048). The prevalence of the GG genotype of Tc2 c.776C>G was higher in patient...Continue Reading

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Citations

Sep 8, 2010·Expert Review of Neurotherapeutics·Phyllis L FaustJames M Powers
Feb 20, 2013·Pediatric Neurology·Morten A HornChantal M E Tallaksen
Jul 16, 2010·Brain Pathology·Isidro FerrerAurora Pujol
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Oct 9, 2018·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·T SchirinziM Cappa
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Nov 23, 2021·Frontiers in Genetics·Amelie S Lotz-HavlaSøren W Gersting

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Adrenoleukodystrophy

Adrenoleukodystrophy (ALD), the most frequent peroxisomal disorder, is an X-linked disorder caused by a defect in the metabolism of long chain fatty acids leading to demyelination, neurodegeneration, and death. Here is the latest research.