Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia.
Hum Genet
; 131(11): 1805-10, 2012 Nov.
Article
em En
| MEDLINE
| ID: mdl-22825317
ABSTRACT
Sarcosinemia is an autosomal recessive metabolic trait manifested by relatively high concentrations of sarcosine in blood and urine. Sarcosine is a key intermediate in 1-carbon metabolism and under normal circumstances is converted to glycine by the enzyme sarcosine dehydrogenase. We encountered six families from two different descents (French and Arab), each with at least one individual with elevated levels of sarcosine in blood and urine. Using the "candidate gene approach" we sequenced the gene encoding sarcosine dehydrogenase (SARDH), which plays an important role in the conversion of sarcosine to glycine, and found four different mutations (P287L, V71F, R723X, R514X) in three patients. In an additional patient, we found a uniparental disomy in the region of SARDH gene. In two other patients, we did not find any mutations in this gene. We have shown for the first time that mutations in the SARDH gene are associated with sarcosinemia. In addition, our results indicate that other genes are most probably involved in the pathogenesis of this condition.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doenças Mitocondriais
/
Sarcosina Desidrogenase
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Erros Inatos do Metabolismo dos Aminoácidos
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Mutação
Limite:
Female
/
Humans
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Male
Idioma:
En
Revista:
Hum Genet
Ano de publicação:
2012
Tipo de documento:
Article
País de afiliação:
Israel