Does the K153R variant of the myostatin gene influence the clinical presentation of women with McArdle disease?

Neuromuscular Disorders

Volumn 19, Issue 3, 2009, Pages 220-222

  González Freire, Marta ^a   Santiago, Catalina ^a   Gómez Gallego, Félix ^a   Pérez, Margarita ^a   Foster, Carl ^b   Arenas, Joaquín ^c   Lucia, Alejandro ^a  

^a UNIVERSIDAD EUROPEA DE MADRID   (Spain)

^b UNIVERSITY OF WISCONSIN LA CROSSE   (United States)

^c HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

Author keywords

GDF 8; Genotype modulator; Glycogen storage disease type V; Glycogenosis type V; McArdle disease

Indexed keywords

ADENOSINE MONOPHOSPHATE DEAMINASE; ALPHA ACTININ 3; CREATINE KINASE; MYOSTATIN;

ADOLESCENT; ADULT; AGED; ARTICLE; CASE REPORT; CLINICAL FEATURE; CREATINE KINASE BLOOD LEVEL; DISEASE SEVERITY; DNA POLYMORPHISM; EXERCISE TOLERANCE; FEMALE; GDF 8 GENE; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC CORRELATION; GENETIC VARIABILITY; GENOTYPE; GLYCOGEN STORAGE DISEASE TYPE 5; HETEROZYGOTE; HUMAN; MUSCLE BIOPSY; MUSCLE INJURY; MUSCLE WEAKNESS; PHYSICAL ACTIVITY; PRIORITY JOURNAL; SEX DIFFERENCE; SINGLE NUCLEOTIDE POLYMORPHISM;

ACTININ; ADOLESCENT; ADULT; AGED; AMP DEAMINASE; DNA MUTATIONAL ANALYSIS; EXERCISE TOLERANCE; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENOTYPE; GLYCOGEN; GLYCOGEN STORAGE DISEASE TYPE V; HETEROZYGOTE; HUMANS; MUSCLE WEAKNESS; MUSCLE, SKELETAL; MUTATION; MYOSTATIN; PEPTIDYL-DIPEPTIDASE A; PHENOTYPE; RESPIRATORY INSUFFICIENCY;

EID: 61849152936     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2009.01.001     Document Type: Article

References (16)

1. Lucia A., Nogales-Gadea G., Pérez M., Martín M.A., Andreu A.L., and Arenas J. McArdle disease: what do neurologists need to know?. Nat Clin Pract Neurol 4 (2008) 568-577
2. Martinuzzi A., Sartori E., Fanin M., et al. Phenotype modulators in myophosphorylase deficiency. Ann Neurol 53 (2003) 497-502
3. Gómez-Gallego F., Santiago C., and Pérez M. The I allele of the ACE gene is associated with improved exercise capacity in women with McArdle disease. Br J Sports Med 42 (2008) 134-140
4. Rubio J.C., Gómez-Gallego F., Santiago C., et al. Genotype modulators of clinical severity in McArdle disease. Neurosci Lett 422 (2007) 217-222
5. Tsujino S., Shanske S., Carroll J.E., et al. Double trouble: combined myophosphorylase and AMP deaminase deficiency in a child homozygous for nonsense mutations at both loci. Neuromuscul Disord 15 (1995) 263-266
6. Lucia A., Gómez-Gallego F., Santiago C., et al. The 577X allele of the ACTN3 gene is associated with improved exercise capacity in women with McArdle's disease. Neuromuscul Disord 17 (2007) 603-610
7. Sharma M., Langley B., Bass J., and Kambadur R. Myostatin in muscle growth and repair. Exerc Sport Sci Rev 29 (2001) 155-158
8. Ferrell R.E., Conte V., Lawrence E.C., Roth S.M., Hagberg J.M., and Hurley B.F. Frequent sequence variation in the human myostatin (GDF8) gene as a marker for analysis of muscle-related phenotypes. Genomics 62 (1999) 203-207
9. Huygens W., Thomis M.A., Peeters M.W., et al. Linkage of myostatin pathway genes with knee strength in humans. Physiol Genomics 17 (2004) 264-270
10. Ivey F.M., Roth S.M., Ferrell R.E., et al. Effects of age, gender, and myostatin genotype on the hypertrophic response to heavy resistance strength training. J Gerontol A Biol Sci Med Sci 55 (2000) M641-M648
11. Seibert M.J., Xue Q.L., Fried L.P., and Walston J.D. Polymorphic variation in the human myostatin (GDF-8) gene and association with strength measures in the Women's Health and Aging Study II cohort. J Am Geriatr Soc 49 (2001) 1093-1096
12. Gonzalez-Freire M, Santiago C, Verde Z, et al. Unique among unique. Is it genetically determined? Br J Sports Med 2008 [Epub ahead of print].
13. Lee S.J., and McPherron A.C. Regulation of myostatin activity and muscle growth. Proc Natl Acad Sci USA 98 (2001) 9306-9311
14. Saunders M.A., Good J.M., Lawrence E.C., Ferrell R.E., Li W.-.H., and Nachman M.W. Human adaptative evolution at myostatin (GDF8), a regulator of muscle growth. Am J Hum Genet 79 (2006) 1089-1097
15. Wagner K.R., Fleckenstein J.L., Amato A.A., et al. A phase I/II trial of MYO-029 in adult subjects with muscular dystrophy. Ann Neurol 63 (2008) 561-571
16. Nogales-Gadea G., Rubio J.C., Fernandez-Cadenas I., et al. Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decay. Hum Mutat 29 (2008) 277-283