Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene.
Hum Mutat
; 24(6): 534, 2004 Dec.
Article
en En
| MEDLINE
| ID: mdl-15532022
ABSTRACT
Hereditary fructose intolerance (HFI) is a recessively inherited disorder of carbohydrate metabolism caused by impaired functioning of human liver aldolase (B isoform; ALDOB). To-date, 29 enzyme-impairing mutations have been identified in the aldolase B gene. Here we report six novel HFI single nucleotide changes identified by sequence analysis in the aldolase B gene. Three of these are missense mutations (g.6846T>C, g.10236G>T, g.10258T>C), one is a nonsense mutation (g.8187C>T) and two affect splicing sites (g.8180G>C and g.10196A>G). We have expressed in bacterial cells the recombinant proteins corresponding to the g.6846T>C (p.I74T), g.10236G>T (p.V222F), and g.10258T>C (p.L229P) natural mutants to study their effect on aldolase B function and structure. All the new variants were insoluble; molecular graphics data suggest this is due to impaired folding.
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Bases de datos:
MEDLINE
Asunto principal:
Intolerancia a la Fructosa
/
Fructosa-Bifosfato Aldolasa
/
Mutación
Tipo de estudio:
Prognostic_studies
Límite:
Adult
/
Child
/
Female
/
Humans
País/Región como asunto:
Europa
Idioma:
En
Revista:
Hum Mutat
Asunto de la revista:
GENETICA MEDICA
Año:
2004
Tipo del documento:
Article
País de afiliación:
Italia