Abstract
The glycolytic enzyme phosphoglycerate mutase (PGAM) is a dimer, and mature human skeletal muscle contains almost exclusively the MM form of the enzyme, PGAM-M. In 1981, we identified a patient with PGAM-M deficiency, and three additional patients have since been described. All presented with exercise intolerance, cramps, and myoglobinuria. We report two new patients with PGAM-M deficiency and describe the molecular lesions in five patients--four African-Americans and one Caucasian. Three patients were homozygous for an identical G-to-A transition converting an encoded Trp to an in-frame stop codon (codon 78). A fourth patient was heterozygous for this mutation and also carried an A-to-C mutation converting Glu to Ala (codon 89). The fifth patient, the only Caucasian, was homozygous for a different point mutation, a C-to-T mutation, converting Arg to Trp (codon 90).
Full text
PDF
Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Bresolin N., Ro Y. I., Reyes M., Miranda A. F., DiMauro S. Muscle phosphoglycerate mutase (PGAM) deficiency: a second case. Neurology. 1983 Aug;33(8):1049–1053. doi: 10.1212/wnl.33.8.1049. [DOI] [PubMed] [Google Scholar]
- Castella-Escola J., Ojcius D. M., LeBoulch P., Joulin V., Blouquit Y., Garel M. C., Valentin C., Rosa R., Climent-Romeo F., Cohen-Solal M. Isolation and characterization of the gene encoding the muscle-specific isozyme of human phosphoglycerate mutase. Gene. 1990 Jul 16;91(2):225–232. doi: 10.1016/0378-1119(90)90092-6. [DOI] [PubMed] [Google Scholar]
- DiMauro S., Bresolin N., Hays A. P. Disorders of glycogen metabolism of muscle. CRC Crit Rev Clin Neurobiol. 1984;1(2):83–116. [PubMed] [Google Scholar]
- DiMauro S., Miranda A. F., Khan S., Gitlin K., Friedman R. Human muscle phosphoglycerate mutase deficiency: newly discovered metabolic myopathy. Science. 1981 Jun 12;212(4500):1277–1279. doi: 10.1126/science.6262916. [DOI] [PubMed] [Google Scholar]
- DiMauro S., Miranda A. F., Olarte M., Friedman R., Hays A. P. Muscle phosphoglycerate mutase deficiency. Neurology. 1982 Jun;32(6):584–591. doi: 10.1212/wnl.32.6.584. [DOI] [PubMed] [Google Scholar]
- Edwards Y. H., Sakoda S., Schon E., Povey S. The gene for human muscle-specific phosphoglycerate mutase, PGAM2, mapped to chromosome 7 by polymerase chain reaction. Genomics. 1989 Nov;5(4):948–951. doi: 10.1016/0888-7543(89)90140-7. [DOI] [PubMed] [Google Scholar]
- Godoy J., Lüders H., Dinner D. S., Morris H. H., Wyllie E. Versive eye movements elicited by cortical stimulation of the human brain. Neurology. 1990 Feb;40(2):296–299. doi: 10.1212/wnl.40.2.296. [DOI] [PubMed] [Google Scholar]
- Grisolia S., Carreras J. Phosphoglycerate mutase from yeast, chicken breast muscle, and kidney (2, 3-PGA-dependent). Methods Enzymol. 1975;42:435–450. doi: 10.1016/0076-6879(75)42149-8. [DOI] [PubMed] [Google Scholar]
- Haggarty N. W., Fothergill L. A. Amino acid sequences of active-site histidine peptides from rabbit muscle phosphoglycerate mutase. FEBS Lett. 1980 Jan 1;109(1):18–20. doi: 10.1016/0014-5793(80)81301-9. [DOI] [PubMed] [Google Scholar]
- Kissel J. T., Beam W., Bresolin N., Gibbons G., DiMauro S., Mendell J. R. Physiologic assessment of phosphoglycerate mutase deficiency: incremental exercise test. Neurology. 1985 Jun;35(6):828–833. doi: 10.1212/wnl.35.6.828. [DOI] [PubMed] [Google Scholar]
- Shanske S., Sakoda S., Hermodson M. A., DiMauro S., Schon E. A. Isolation of a cDNA encoding the muscle-specific subunit of human phosphoglycerate mutase. J Biol Chem. 1987 Oct 25;262(30):14612–14617. [PubMed] [Google Scholar]
- Tsujino S., Sakoda S., Mizuno R., Kobayashi T., Suzuki T., Kishimoto S., Shanske S., DiMauro S., Schon E. A. Structure of the gene encoding the muscle-specific subunit of human phosphoglycerate mutase. J Biol Chem. 1989 Sep 15;264(26):15334–15337. [PubMed] [Google Scholar]
- Uchida K. cDNA encoding type B subunit of rat phosphoglycerate mutase: its isolation and nucleotide sequence. Arch Biochem Biophys. 1991 Aug 1;288(2):558–561. doi: 10.1016/0003-9861(91)90235-b. [DOI] [PubMed] [Google Scholar]
- Winn S. I., Watson H. C., Harkins R. N., Fothergill L. A. Structure and activity of phosphoglycerate mutase. Philos Trans R Soc Lond B Biol Sci. 1981 Jun 26;293(1063):121–130. doi: 10.1098/rstb.1981.0066. [DOI] [PubMed] [Google Scholar]