Laboratory Genetics in Minnesota

2004 Publications of the Biochemical Genetics Laboratory

In 2004, members of the BGL have co-authored 25 peer-reviewed publications and presented more than 34 abstracts at national and international conferences. These references illustrate the variety, clinical breadth, and continued growth of the areas we have been investigating.

Original Articles

Agmon Y, Khandheria BK, Meissner I, Petterson TM, O'Fallon WM, Wiebers DO, Christianson TJH, McConnell JP, Whisnant JP, Seward JB, Tajik AJ. C-reactive protein and atherosclerosis of the thoracic aorta – A population-based transesophageal echocardiographic study. Arch Intern Med 2004; 164:1781-7.

Babovic-Vuksanovic D, Jenkins SC, Ensenauer R, Newman DC, Jalal SM. Subtelomeric deletion of 18p in an adult with paranoid schizophrenia. Am J Med Genet (2004);124A:318-22.

Baudhuin LM, Hartman SJ, O'Brien JF, Meissner I, Galen RS, Ward JN, Hogen SM, Branum EL, McConnell JP. Electrophoretic measurement of lipoprotein(a) cholesterol in plasma with and without ultracentrifugation: comparison with an immunoturbidimetric lipoprotein(a) method. Clin Biochem 2004; 37:481-8.

Bergen HR, Zeldenrust SR, Butz ML, Snow DS, Dyck PJ, Dyck PJB, Klein CJ, O'Brien JF, Thibodeau SN, Muddiman DC. Identification of transthyretin variants by sequential proteomic and genomic analysis. Clin Chem 2004; 50:1544-52.

Bruno A, McConnell JP, Cohen SN, Tietjen GE, Wallis RA, Gorelick PB, Bang NU. Serial urinary 11-dehydrothromboxane B2, aspirin dose, and vascular events in blacks after recent cerebral infarction. Stroke 2004; 35:727-30.

Dispenzieri A, Gertz MA, Kyle RA, Lacy MQ, Burritt MF, Therneau TM, McConnell JP, Litzow MR, Gastineau DA, Tefferi A, Inwards DJ, Micallef IN, Ansell SM, Porrata LF, Elliott MA, Hogan WJ, Rajkumar SV, Fonseca R, Greipp PR, Witzig TE, Lust JA, Zeldenrust SR, Snow DS, Hayman SR, McGregor CG, Jaffe AS. Prognostication of survival using cardiac troponins and N-terminal pro-brain natriuretic peptide in patients with primary systemic amyloidosis undergoing peripheral blood stem cell transplantation. Blood 2004; 104:1881-7.

Ensenauer R, Jalal SM, Meyer RG, Babovic-Vuksanovic D. Unbalanced cryptic 5p deletion/17p duplication identified by subtelomeric FISH in a family with a boy with chimerism and a balanced t(4;5). Am J Med Genet 2004; 125A: 86-91.

Ensenauer R, Thiel T, Schwab KO, Stöckler-Ipsiroglu S, Schulze A, Lehnert W. Guanidinoacetate methyltransferase deficiency: presence of creatine in human muscle prior to treatment. Mol Genet Metab 2004; 82:208-13.

Ensenauer R, Vockley J, Willard JM, Huey JC, Sass JO, Edland SD, Burton BK, Berry SA, Santer R, Grünert S, Koch HG, Marquardt I, Rinaldo P, Hahn S, Matern D. A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening. Am J Hum Genet 2004; 75:1136-42.

Hibbs KA, Skubitz KM, Pambuccian SE, Casey RC, Burleson KM, Oegema TR, Thiele JJ, Grindle SM, Bliss RL, Skubitz APN. Differential Gene Expression in Ovarian Carcinoma. Identification of Potential Biomarkers. Am J Pathol 2004; 165:397-414.

Iacobazzi V, Pasquali M, Singh R, Matern D, Rinaldo P, Amat di San Filippo C, Palmieri F, Longo N. Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation. Am J Med Genet 2004; 126A:150-5.

Jayachandran M, Okano H, Chatrath R, Owen WG, McConnell JP, Miller VM. Sex-specific changes in platelet aggregation and secretion with sexual maturity in pigs. J Appl Physiol 2004; 97:1445-52.

Kullo IJ, Bailey KR, McConnell JP, Peyser PA, Bielak LF, Kardia SLR, Sheedy PF, Boerwinkle E, Turner ST. Low-density lipoprotein particle size and coronary atherosclerosis in subjects belonging to hypertensive sibships. Am J Hypertens 2004; 17:845-51.

Lacey JM, Minutti CZ, Magera MJ, Tauscher AL, Casetta B, McCann M, Lymp J, Hahn SH, Rinaldo P, Matern D. Improved sensitivity of newborn screening for congenital adrenal hyperplasia by second tier steroid profiling using tandem mass spectrometry. Clin Chem 2004; 50:621-625.

McKinney JT, Longo N, Hahn SH, Matern D, Rinaldo P, Strauss AW, Dobrowolski SF. Rapid, comprehensive screening of the human medium chain acyl-CoA dehydrogenase gene. Mol Genet Metab 2004; 82:112-120.

Minutti CZ, Lacey JM, Magera MJ, Hahn SH, McCann M, Schulze A, Cheillan D, Dorche C, Chace DH, Lymp JF, Zimmerman D, Rinaldo P, Matern D. Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia. J Clin Endocrinol Metab 2004; 89: 3687-93.

Santos S, Rooke TW, Bailey KR, McConnell JP, Kullo IJ. Relation of markers of inflammation (C-reactive protein, white blood cell count, and lipoprotein associated phospholipase A2_ to the ankle-brachial index. Vasc Med 2004; 9:171-6.

Schuler AM, Gower BA, Matern D, Rinaldo P, Wood PA. Influence of dietary fatty acid chain-length on metabolic tolerance in mouse models of inherited defects in mitochondrial fatty acid β-oxidation. Mol Genet Metab 2004; 83:322-9.

Shekhawat PS, Yang HS, Bennett MJ, Carter AL, Matern D, Tamai I, Ganapathy V. Carnitine content and expression of mitochondrial β-oxidation enzymes in placentas of wild-type (OCTN2+/+) and OCTN2 Null (OCTN2-/-) mice. Pediatr Res 2004; 56:323-328.

Tiranti V, D'Adamo P, Briem E, Ferrari G, Mineri R, Lamantea E, Mandel H, Balstri P, Garcia-Silva MT, Vollmer B, Rinaldo P, Hahn SH, Leonard JV, Rahman S, Dionisi-Vici C, Garavaglia B, Gasparini P, Zeviani M. Ethylmalonic Encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. Am J Hum Genet 2004; 74:239-252.

Yu W, Liang X, Ensenauer RE, Vockley J, Sweetman L, Schulz H. Leaky ß-oxidation of a trans fatty acid in rat mitochondria: incomplete ß-oxidation of elaidic acid is due to the accumulation of 5-trans tetradecenoyl-CoA and its hydrolysis and conversion to 5-trans-tetradecenoylcarnitine in the matrix of rat mitochondria. J Biol Chem 2004; 279: 52160-7.

Reviews and Chapters

Cuthbert CD, Tortorelli S, Ensenauer RE, Rinaldo P, Matern D. Inherited abnormalities in mitochondrial fatty acid oxidation. In: Walker WA, Goulet OJ, Kleinman RE, Sanderson IR, Sherman PM, Shneider BL, eds. Walker's Pediatric Gastrointestinal Disease, 4th ed., Decker Inc. Hamilton, Ontario, BC, Canada 2004

Grier RE, Gahl WA, Cowan T, Bernardini I, McDowell GA, Rinaldo P. Revised sections F7.5 (quantitative amino acid analysis) and F7.6 (qualitative amino acid analysis): American College of Medical Genetics Standards and Guidelines for Clinical Genetics Laboratories. Genet Med 2004; 6:66-68.

Rinaldo P, Hahn SH, Matern D. (2004) Clinical Biochemical Genetics in the 21st century. Acta Pediatr Scand (Suppl) 445:1-6.

Rinaldo P, Tortorelli S, Matern D. Recent developments and new applications of tandem mass spectrometry in newborn screening. Curr Op Pediatr 2004; 16:427-33.