Serum pyruvate‐kinase (PK) activity during pregnancy in potential carriers for duchenne muscular dystrophy

Zatz, Mayana; Passos, Maria Rita; Bortolini, Eliete Rabbi; Opitz, John M.

doi:10.1002/ajmg.1320150121

Cited by 5 publications

(1 citation statement)

References 7 publications

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“…It was concluded that CK and PK levels were under genetic control in normal twins. Several studies reported that some factors, such as physical exercise [9], age [11], race [12,21], pregnancy [22], and seasonal variation [13], may influence CK and PK activities in healthy subjects. However, little is known about the influence of genetic and environmental factors on ICDH activity.…”

Section: Introductionmentioning

confidence: 99%

Estimates of Genetic and Environmental Components of Serum Isocitrate Dehydrogenase (ICDH) in Normal Twins

Rapaport

Colletto

Vainzof

et al. 1991

Acta genet. med. gemellol.: twin res.

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Section: Introductionmentioning

confidence: 99%

Estimates of Genetic and Environmental Components of Serum Isocitrate Dehydrogenase (ICDH) in Normal Twins

Rapaport

Colletto

Vainzof

et al. 1991

Acta genet. med. gemellol.: twin res.

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Genetic and environmental components of serum creatine kinase (CK) and pyruvate kinase (PK) in normal twins: Implication for genetic risks estimates in Duchenne muscular dystrophy carriers

1988

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The serum activity of creatine kinase (CK) and pyruvate kinase (PK) was measured in 98 pairs of same-sex Brazilian twins. The purpose of this study was to estimate the genetic and environmental components of serum activity levels for both enzymes. Heritabilities were estimated separately by path analysis in each sex. The results showed that CK and PK activities are under genetic control in normal males and females. Environmental components were not statistically significant for CK or PK. The genetic component of both enzymes estimated in females has implications in the calculation of genetic risks for Duchenne muscular dystrophy carriers.

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Duchenne muscular dystrophy: Pathogenetic aspects and genetic prevention

1984

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Duchenne muscular dystrophy (DMD) is the most common sex linked lethal disease in man (one case in about 4000 male live births). The patients are wheelchair bound around the age of 8-10 years and usually die before the age of 20 years. The mutation rate, estimated by different methods and from different population studies, is in the order of 7 X 10(-5), which is higher than for any other X-linked genetic disease. Moreover, unlike other X linked diseases such as hemophilia A or Lesh-Nyhan's disease, there seems to be no sex difference for the mutation rates in DMD. Several observations of DMD in girls bearing X-autosomal translocations and linkage studies on two X chromosomal DNA restriction fragment length polymorphisms indicate that the DMD locus is situated on the short arm of the X chromosome, between Xp11 and Xp22. It may be of considerable length, and perhaps consisting of actively coding and non-active intervening DNA sequences. Thus unequal crossing over during meiosis in females could theoretically account for a considerable proportion of new mutations. However, there is no structurally or functionally abnormal protein known that might represent the primary gene product, nor has any pathogenetic mechanism leading to the observed biochemical and histological alterations been elucidated. Among the numerous pathogenetic concepts the hypothesis of a structural or/and functional defect of the muscular plasma membrane is still the most attractive. It would explain both the excess of muscular constituents found in serum of patients and carriers, such as creatine kinase (CK), as well as the excessive calcium uptake by dystrophic muscle fibres, which, prior to necrosis, could lead to hypercontraction, rupture of myofilaments in adjacent sarcomeres and by excessive Ca uptake to mitochondrial damage causing crucial energy loss. The results of studies on structural and functional membrane abnormalities in cells other than muscle tissue, e.g., erythrocytes, lymphocytes and cultured fibroblasts, indicate that the DMD mutation is probably demonstrable in these tissues. However, most of the findings are still difficult to reproduce or even controversial. DMD is an incurable disease; therefore most effort, in research as well as in practical medicine, is concentrated upon its prevention.(ABSTRACT TRUNCATED AT 400 WORDS)

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Serum pyruvate‐kinase (PK) activity during pregnancy in potential carriers for duchenne muscular dystrophy

Cited by 5 publications

References 7 publications

Estimates of Genetic and Environmental Components of Serum Isocitrate Dehydrogenase (ICDH) in Normal Twins

Estimates of Genetic and Environmental Components of Serum Isocitrate Dehydrogenase (ICDH) in Normal Twins

Genetic and environmental components of serum creatine kinase (CK) and pyruvate kinase (PK) in normal twins: Implication for genetic risks estimates in Duchenne muscular dystrophy carriers

Duchenne muscular dystrophy: Pathogenetic aspects and genetic prevention

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