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Molecular and Human Genetics

Houston, Texas

Department of Molecular and Human Genetics
Department of Molecular and Human Genetics
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Fernando Scaglia, M.D.

Fernando Scaglia, M.D.

Professor of Molecular and Human Genetics


B.S., National College, Buenos Aires, Argentina, 1982
M.D., University of La Plata, 1989
Intern, Pediatrics, Emory University School of Medicine, 1992
Resident, Pediatrics, Emory University School of Medicine, 1992-1995
Fellow, Medical Genetics, Emory University School of Medicine, 1995-1998

Board Certifications

American Board of Pediatrics
American Board of Medical Genetics: Clinical Genetics

Professional Organizations

American Society of Human Genetics
Society of Inherited Metabolic Disorders
Society for the Study of Inherited Metabolic Disorders

Clinical Interests

Inherited Metabolic Disorders

Research Interests

My primary research interest involves the study of the natural history and the molecular characterization of mitochondrial cytopathies. There is cumulative evidence based on isolated cased reports and limited neuroradiological, biochemical, and molecular studies that mitochondrial dysfunction may be linked to autism spectrum disorders (ASDs). It has been hypothesized that ASDs are prevalent in subjects with mitochondrial cytopathies.

One of the current projects is to characterize from a clinical, biochemical and molecular standpoint the autistic endophenotype in subjects with mitochondrial disease. A detailed clinical and molecular understanding of a potential mitochondrial dysfunction linked to this group of neurobehavioral disorders, if present, offers the possibility of evaluating more specific therapies and improved clinical outcomes for ASD phenotypes. In addition, I am interested in ascertaining the prevalence of mitochondrial DNA depletion in the setting of acute liver failure in infants. A search of candidate nuclear genes involved in the maintenance of mitochondrial DNA integrity and responsible for the phenotype of recessive mitochondrial encephalomyopathies is currently underway by using exome sequencing.

Moreover, I have been involved in two clinical research studies that are evaluating nitric oxide flux and production and glucose kinetics in subjects with MELAS syndrome. This syndrome is associated with metabolic stroke episodes. These episodes could reflect the effect of nitric oxide depletion in the small vasculature. By assessing nitric oxide production and the effect of arginine and citrulline supplementation in these subjects, potential therapeutic strategies could be offered to them. The glucose kinetics study would shed light on the different types of pathological mechanisms of diabetes in MELAS syndrome helping to identify potential biomarkers and therapies.

Selected Publications

  1. El-Hattab AW, Emrick LT, Craigen WJ, Scaglia F (2012). Citrulline and arginine utility in treating nitric oxide deficiency in mitochondrial disorders. Mol. Genet. Metab. 107(3): 247-52. PubMed PMID: 22819233
  2. Campbell IM, Yatsenko SA, Hixson P, Reimschisel T, Thomas M, Wilson W, Dayal U, Wheless JW, Crunk A, Curry C, Parkinson N, Fishman L, Riviello JJ, Nowaczyk MJ, Zeesman S, Rosenfeld JA, Bejjani BA, Shaffer LG, Cheung SW, Lupski JR, Stankiewicz P, Scaglia F (2012). Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A. Genet. Med. 14(10): 868-76. PubMed PMID: 22722545
  3. Tavyev Asher YJ, Scaglia F (2012). Molecular bases and clinical spectrum of early infantile epileptic encephalopathies. Eur. J. Med. Genet. 55(5): 299-306. PubMed PMID: 22548976
  4. Bekheirnia MR, Zhang W, Eble T, Willis A, Shaibani A, Wong LJ, Scaglia F, Dhar SU (2012). POLG mutation in a patient with cataracts, early-onset distal muscle weakness and atrophy, ovarian dysgenesis and 3-methylglutaconic aciduria. Gene 499(1): 209-12. PubMed PMID: 22405928
  5. El-Hattab AW, Hsu JW, Emrick LT, Wong LJ, Craigen WJ, Jahoor F, Scaglia F (2012). Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation. Mol. Genet. Metab. 105(4): 607-14. PubMed PMID: 22325939
  6. Scaglia F (2012). Nuclear gene defects in mitochondrial disorders. Methods Mol. Biol. 837: 17-34. Review. PubMed PMID: 22215538
  7. Schaaf CP, Blazo M, Lewis RA, Tonini RE, Takei H, Wang J, Wong LJ, Scaglia F (2011). Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations. Mol. Genet. Metab. 103(4): 383-7. PubMed PMID: 21636302
  8. Kamdar KY, Krull KR, El-Zein RA, Brouwers P, Potter BS, Harris LL, Holm S, Dreyer Z, Scaglia F, Etzel CJ, Bondy M, Okcu MF (2011). Folate pathway polymorphisms predict deficits in attention and processing speed after childhood leukemia therapy. Pediatr. Blood Cancer 57(3): 454-60. PubMed PMID: 21618410
  9. Marini JC, Lanpher BC, Scaglia F, O'Brien WE, Sun Q, Garlick PJ, Jahoor F, Lee B (2011). Phenylbutyrate improves nitrogen disposal via an alternative pathway without eliciting an increase in protein breakdown and catabolism in control and ornithine transcarbamylase-deficient patients. Am. J. Clin. Nutr. 93(6): 1248-54. PubMed PMID: 21490144
  10. Hanchard NA, Shchelochkov OA, Roy A, Wiszniewska J, Wang J, Popek EJ, Karpen S, Wong LJ, Scaglia F (2011). Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis. Mol. Genet. Metab. 103(3): 262-7. PubMed PMID: 21478040

Contact Information

Fernando Scaglia, M.D.
Department of Molecular and Human Genetics
Baylor College of Medicine
One Baylor Plaza, MS BCM225
Houston, TX, 77030, U.S.A.

Phone: 832-822-4280
Fax: 832-825-4294

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