Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria

Coenzyme A (CoA) is an essential cofactor for dozens of reactions in intermediary metabolism. Dysregulation of CoA synthesis or acyl CoA metabolism can result in metabolic or neurodegenerative disease. Although several methods use liquid chromatography coupled with mass spectrometry/mass spectrometry (LC-MS/MS) to quantify acyl CoA levels in biological samples, few allow for simultaneous measurement of intermediates in the CoA biosynthetic pathway. Here we describe a simple sample preparation and LC-MS/MS method that can measure both short-chain acyl CoAs and biosynthetic precursors of CoA. The method does not require use of a solid phase extraction column during sample preparation and exhibits high sensitivity, precision, and accuracy. It reproduces expected changes from known effectors of cellular CoA homeostasis and helps clarify the mechanism by which excess concentrations of etomoxir reduce intracellular CoA levels.

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President's Address: Twinning in Families of Triplets

Acta geneticae medicae et gemellologiae twin research ◽

10.1017/s0001566000005195 ◽

1990 ◽

Vol 39 (3) ◽

pp. 279-293 ◽

Cited By ~ 10

Author(s):

A.W. Eriksson

Keyword(s):

General Population ◽

Physical Condition ◽

High Frequency ◽

Maternal Age ◽

The Past ◽

Low Rate

AbstractA study was conducted on twinning in relatives of consecutive triplet sets in the Åland Islands in the years 1740-1939. The incidence of twinning in sibships of triplets was extremely high, 80/1000 (56/1000 before and 143/1000 after the triplet maternity). In Finland as a whole, 1905-1954, the twinning rate was among mothers of triplets 38/1000, ie, about 2.6 times the rate in general population, and was higher after (48/1000) than before the triplet maternity (34/1000). In the sibships of fathers of triplets there was a low rate of twinning (below 10/1000) both of same-sexed (SS) and of opposite-sexed (OS) triplets. Among sibships of mothers of OS triplets the twinning rate was 18/1000 and among mothers' sibships of SS triplets 26/1000. The series of triplet families from both Åland and Finland as a whole indicate a considerably higher frequency of twinning on the maternal than on the paternal side. The sibships of OS triplets in Finland have higher twinning rates than sibships of SS triplets (50/1000 vs 27/1000). In sibships of triplets, not only the DZ but also the MZ twinning rates were approximately twice as high as those in the general population. The triplet rates in Finland were increasing strongly with maternal age and were in the last century among mothers of 30-39 years of age considerably higher than among mothers from this century. This, in combination with higher mean parity, may explain the high rates of multiple maternities in sibships of triplets in the past. The rate of triplet maternities seems to be more sensitive to sociodemographic changes than the rate of twin maternities. Mothers of triplets in Finland had a high frequency (more than 40%) of prenuptially conceived firstborn children. This, and a short protogenesic interval indicate that triplet-prone mothers are more fecundable, ie, they conceive with greater ease and/or may have a better physical condition than other women for completing a gestation with multiple embryos.

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