Associate Professor, Department
of Molecular and Human Genetics
B.S., National College, Buenos Aires, Argentina, 1982
M.D., University of La Plata, Buenos Aires, Argentina, 1989
Intern in Pediatrics, Emory University School of Medicine, 1992
Resident in Pediatrics, Emory University School of Medicine, 1992-1995
Fellow in Medical Genetics, Emory University School of Medicine, 1995-1998
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RESEARCH
INTERESTS:
My primary research interest involves the study
of the natural history and the molecular characterization of mitochondrial
cytopathies. In particular, I have been interested in the molecular
bases of the psychomotor retardation observed in patients with
mitochondrial dysfunction. Cognitive dysfunction due to deficient
respiratory chain function could involve several pathogenic events:
i.e., ATP deficiency, alterations in redox status, induction of
apoptosis or increased production of reactive oxygen species, all
of which could be important determinants of cognitive deficits.
I am also interested in dissecting the pathomechanism of aortic
root dilatation that is a newly described feature in patients with
mitochondrial cytopathies. In addition, I am interested in ascertaining
the prevalence of mitochondrial DNA depletion and mutations in
nuclear genes involved in the maintenance of mitochondrial DNA
integrity in the setting of acute liver failure in infants.
Another area of interest is the clinical, biochemical, and molecular characterization of cerebral folate deficiency, a newly described neurometabolic disorder associated with epilepsy, mental retardation, dyskinesia, and autism.
SELECTED PUBLICATIONS:
1. Dimmock D, Kobayashi K, Iijima M, Tabata
A, Wong LJ, Saheki T, Lee B, Scaglia F (2007). Citrin
deficiency: a novel cause of failure to thrive that responds to a high-protein,
low-carbohydrate diet. Pediatrics 119: e773-777.
2. Sano M, Izumi Y, Helenius K, Asakura M, Rossi DJ, Xie M, Taffet G, Hu L, Pautler RG, Wilson CR, Boudina S, Abel ED, Taegtmeyer H, Scaglia F, Graham BH, Kralli A, Shimizu N, Tanaka H, Makela TP, Schneider MD (2007). Ménage-à-trois 1 is critical for the transcriptional function of PPARγ coactivator-1. Cell Metab. 5: 129-142.
3. del Gaudio D, Fang P, Scaglia F, Ward PA, Craigen WJ, Glaze DG, Neul JL, Patel A, Lee JA, Irons M, Berry SA, Pursley AA, Grebe TA, Freedenberg D, Martin RA, Hsich GE, Khera JR, Friedman NR, Zoghbi HY, Eng CM, Lupski JR, Beaudet AL, Cheung SW, Roa BB (2006). Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet. Med. 8: 784-792.
4. Scaglia F, Hsu CH, Kwon H, Bai RK, Perng CL, Chang HM, Dai P, Smith EO, Whiteman DA, Feigenbaum A, Gropman A, Wong LJ (2006). Molecular bases of hearing loss in multi-systemic mitochondrial cytopathy. Genet. Med. 8: 641-652. Erratum in: Genet. Med. 8: 799.
5. Scaglia F, Northrop JL (2006). The mitochondrial myopathy encephalopathy, lactic acidosis with stroke-like episodes (MELAS) syndrome: a review of treatment options. CNS Drugs. 20: 443-464.
6. Scaglia F, Lee B (2006). Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiency. Am. J. Med. Genet. C. Semin. Med. Genet. 142: 113-120.
7. Ellis CE, Murphy EJ, Mitchell DC, Golovko MY, Scaglia F, Barcelo-Coblijn GC, Nussbaum RL (2005). Mitochondrial lipid abnormality and electron transport chain impairment in mice lacking alpha-synuclein. Mol. Cell. Biol. 25: 10190-10201.
8. Moretti P, Sahoo T, Hyland K, Bottiglieri T, Peters S, del Gaudio D, Roa B, Curry S, Zhu H, Finnell RH, Neul JL, Ramaekers VT, Blau N, Bacino CA, Miller G, Scaglia F (2005). Cerebral folate deficiency with developmental delay, autism, and response to folinic acid. Neurology 64: 1088-1090.
9. Lalani SR, Vladutiu GD, Plunkett K, Lotze TE, Adesina AM, Scaglia F (2005). Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency. Arch. Neurol. 62: 317-320.
10. Scaglia F, Towbin J, Craigen W, Belmont J, Smith E, Sneish S, Ware S, Hunter J, Fernbach S, Vladutiu G, Wong LJ, Vogel H (2004). Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease. Pediatrics 114: 925-931.
For more publications, see listing on Pub Med.
CLINICAL
INFORMATION:
Board Certifications:
American Board of Pediatrics
American Board of Genetics
Primary Focus:
Inherited Metabolic Disorders
Professional Organizations:
American Society of Human Genetics
Society of Inherited Metabolic Disorders
Society for the Study of Inherited Metabolic Disorders
CONTACT INFORMATION:
Fernando Scaglia, M.D.
Department of Molecular and Human Genetics
Baylor College of Medicine
Texas Children's Hospital
Clinical Care Center
6701 Fannin, CC1560
Houston, Texas 77030, U.S.A.
Mail Stop CC1560
Telephone: 832-822-4322
Fax: 832-825-4294
E-mail: