Identification of a genetic mutation in a family with fructose-1,6-bisphosphatase deficiency

Yoshiharu Kikawa, Manabu Inuzuka, Byun Young Jin, Satomi Kaji, Yoshiki Yamamoto, Yosuke Shigematsu, Akio Nakai, Akira Taketo, Toshihiro Ohura, Hitoshi Mikami, Hideo Mizunuma, Yoichi Suzuki, Kuniaki Narisawa, Masakatsu Sudo

Research output: Contribution to journalArticlepeer-review

22 Citations (Scopus)


Fructose-1,6-bisphosphatase deficiency is an inheritable disorder of gluconeogenesis. Sequence analysis of the cDNA of the fructose-1,6-bisphosphatase mRNA isolated from monocytes from a girl with this disease and her consanguineous parents revealed that the patient and her parents were a homozygote and heterozygotes for an insertion of one G residue at G957GGGG961, respectively. This mutation resulted in translation of a truncated enzyme protein, and the mutant protein showed no fructose-1,6-bisphosphatase activity in an overexpression experiment in Escherichia coli. However, this mutation is located in a region of the amino acid sequence which is not well conserved among mammals. A mutagenized clone was prepared from the normal clone. The extents of substitutions and deletions of the amino acid sequence were predicited to be less in the mutagenized protein than in the mutant protein. This mutagenized clone also expressed no fructose-1,6-bisphosphatase activity, although both of two normal clones from control monocytes and a control liver sample expressed an apparently normal level of fructose-1,6-bisphosphatase activity. Thus, this mutation is concluded to be responsible for fructose-1,6-bisphosphatase deficiency in this patient.

Original languageEnglish
Pages (from-to)797-804
Number of pages8
JournalBiochemical and biophysical research communications
Issue number3
Publication statusPublished - 1995 May 25

ASJC Scopus subject areas

  • Biophysics
  • Biochemistry
  • Molecular Biology
  • Cell Biology


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