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GM17472 Fibroblast

Description:

ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF
ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS

Affected:

Yes

Sex:

Male

Age:

13 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • External Links
  • Culture Protocols

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of Lipid Metabolism
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Race White
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically affected; benign heart murmur; reactive airway disease; recurrent migraine headaches usually accompanied by a visual aura; noninflammatory myopathy; severe leg and calf pain after infections and exertion; acute episode of severe muscle cramping, contractions and pain associated with elevated CPK levels in serum occurred at age 8 years; at the time of this acute episode the total carnitine was 22.5 (normal 33.9-69) and free carnitine was 18.7 (normal 30.2-56.8); recurrent rhabdomyolysis; light microscopy performed on muscle biopsy was normal; 50% of normal carnitine palmitoyl transferase II activity; normal small-chain Acyl-CoA dehydrogenase activity in fibroblasts and muscle; fibroblast oxidation studies showed marked elevation of butylcarnitine; elevation of butyryl carnitine after MCT load consistent with a partial defect in short-chain acyl-Co-A dehydrogenase deficiency; ethylmalonic acid level was normal in urine; donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 625 of the ACADS gene [625G>A] resulting in a substitution of serine for glycine at codon 185 [Gly185Ser (G185S)] and a second allele has a C>T transition at nucleotide 511 of the ACADS gene [511C>T] resulting in a substitution of tryptophan for arginine at codon 147 [Arg147Trp (R147W)].

Characterizations

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PDL at Freeze 0.88
Passage Frozen 17
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin confirmed by LINE assay
 
Gene ACADS
Chromosomal Location 12q22-qter
Allelic Variant 1 606885.0007; SCAD DEFICIENCY
Identified Mutation GLY185SER; Corydon et al (2001) studied 10 patients with ethylmalonic aciduria and SCAD deficiency (201470) in fibroblasts and found a 625G-A change in the SCAD gene, resulting in a gly185-to-ser (G185S) substitution, in 9 of the patients, 5 of whom were homozygous for this variation (3 had additional mutations). One patient with dysmorphic features and developmental delay was heterozygous for this mutation and for 511C-T (606885.0006), both of which have been referred to as 'variations,' because 14% of the general population has been found to be either homozygous or double heterozygous for them. Expression studies in E. coli showed that the G185S SCAD protein has 86% of wildtype activity.
 
Gene ACADS
Chromosomal Location 12q22-qter
Allelic Variant 2 606885.0006; SCAD DEFICIENCY
Identified Mutation ARG147TRP; Gregersen et al. (1998) found a 511C-T mutation (resulting in an arg147-to-trp amino acid substitution) in 13 of 130 and 15 of 67 625G polymorphic alleles, respectively, of normal controls and patients with elevated EMA excretion; they never found it in association with the 625A variant. This overrepresentation of the haplotype 511T-625G among the common 625G alleles in patients compared with controls was significant (P less than 0.02), suggesting that the allele 511T-625G, like 511C-625A, confers susceptibility to ethylmalonicaciduria. Gregersen et al. (1998) concluded that ethylmalonicaciduria, a commonly detected biochemical phenotype, is a complex multifactorial/polygenic condition where, in addition to the role of SCAD susceptibility alleles, other genetic and environmental factors are involved.

Phenotypic Data

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Remarks Clinically affected; benign heart murmur; reactive airway disease; recurrent migraine headaches usually accompanied by a visual aura; noninflammatory myopathy; severe leg and calf pain after infections and exertion; acute episode of severe muscle cramping, contractions and pain associated with elevated CPK levels in serum occurred at age 8 years; at the time of this acute episode the total carnitine was 22.5 (normal 33.9-69) and free carnitine was 18.7 (normal 30.2-56.8); recurrent rhabdomyolysis; light microscopy performed on muscle biopsy was normal; 50% of normal carnitine palmitoyl transferase II activity; normal small-chain Acyl-CoA dehydrogenase activity in fibroblasts and muscle; fibroblast oxidation studies showed marked elevation of butylcarnitine; elevation of butyryl carnitine after MCT load consistent with a partial defect in short-chain acyl-Co-A dehydrogenase deficiency; ethylmalonic acid level was normal in urine; donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 625 of the ACADS gene [625G>A] resulting in a substitution of serine for glycine at codon 185 [Gly185Ser (G185S)] and a second allele has a C>T transition at nucleotide 511 of the ACADS gene [511C>T] resulting in a substitution of tryptophan for arginine at codon 147 [Arg147Trp (R147W)].

External Links

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dbSNP dbSNP ID: 21130
Gene Cards ACADS
Gene Ontology GO:0004085 butyryl-CoA dehydrogenase activity
GO:0005739 mitochondrion
GO:0006091 energy pathways
GO:0006118 electron transport
GO:0006631 fatty acid metabolism
GO:0006635 fatty acid beta-oxidation
GO:0016491 oxidoreductase activity
NCBI Gene Gene ID:35
NCBI GTR 201470 ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF; ACADSD
606885 ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS
OMIM 201470 ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF; ACADSD
606885 ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS
Omim Description ACADS DEFICIENCY, INCLUDED
  ACYL-CoA DEHYDROGENASE, C-2 TO C-3 SHORT CHAINACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, INCLUDED
  ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS
  LIPID-STORAGE MYOPATHY SECONDARY TO SHORT-CHAIN ACYL-CoA DEHYDROGENASEDEFICIENCY, INCLUDED
  SCAD DEFICIENCY, INCLUDED
  SCADH DEFICIENCY, INCLUDED
  SHORT-CHAIN ACYL-CoA DEHYDROGENASE; SCAD

Culture Protocols

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Cumulative PDL at Freeze 5.14
Passage Frozen 17
Split Ratio 1:3
Temperature 37 C
Percent CO2 5%
Percent O2 3%
Medium Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not inactivated
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International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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