Human Genetics

Min-Xin Guan, PhD

Title

Associate Professor in Human Genetics

Email

min-xin.guan@cchmc.org

Phone

513-636-3337

Fax

513-636-2261

Credentials

BS: Biology, Hangzhou University, 1983

PhD: The Australian National University, Canberra, Australia, 1993

Research Fellow: California Institute of Technology, Pasadena, Ca. 1993-1996

Senior Research Fellow: California Institute of Technology, Pasadena, Ca. 1996-1999

Position History

1996-99 Senior Research Fellow, Division of Biology, California Institute of Technology, Pasadena, California

1999-2004 Assistant Professor of Pediatrics, Division and Program in Human Genetics, Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine, Cincinnati, Ohio

2004-present Associate Professor of Pediatrics, Director of Mitochondrial Genetics Laboratory, Center of Hearing and Deafness Research, and Division and Program in Human Genetics, Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine, Cincinnati, Ohio

Awards and Honors

1989-93 The Australian National University PhD Scholarship, 1989-1993

2001-2003 Otological Scholar, Deafness Research Foundation

2001-2003 Research Fellowship, United Mitochondrial Disease Foundation

Research

Mitochondrial biogenesis, cellular and molecular biology of mitochondrial disorders, especialy in hearing loss and neuromuscular disorders.

Research Grants and Contracts

Past

Identification and evaluation of genetic factors involved in aminoglycoside ototoxicity, 01/01/02-12/31/02
Principal Investigator: Min-Xin Guan, PhD (10%)
Deafness Research Foundation Research Grant
Funding: $20,000 (Direct)

Biochemical Basis for Maternally Inherited Deafness, 07/01/2001-06/30/2003
Principal Investigator: Min-Xin Guan, PhD (10%)
United Mitochondrial Disease Foundation Grant Award
Funding: $30,000 (Direct)

Biochemical Basis of Maternally Inherited Deafness, 05/01/2001-04/30/2004
Principal Investigator: Min-Xin Guan, PhD (10%)
National Institutes of Health, NIDCD/1 R03-DC-04958
Funding: $150,000 (Direct)

Contribution of Mitochondrial Genes to Hypertension, 05/01/2001-04/30/2004
Principal Investigator: Faina Schwartz, PhD
Co-investigator: Min-Xin Guan, PhD (20%)
National Institutes of Health, NIA/1 RO1-AG1841
Funding: $675,000 (direct)

Current

Genetic Correction of Maternally Inherited Diseases, 07/01/02-06/30/05
Principal Investigator: Min-Xin Guan, PhD (20%)
National Institutes of Health, NINDS/1 R01 NS 044015
Funding:$375,000 (Direct)

Molecular mechanism of aminoglycoside ototoxicity, 07/01/02-06/30/07
Principal Investigator: Min-Xin Guan, PhD (30%)
National Institutes of Health, NIDCD/1 R01 DC 05230
Funding: $1,250,000 (direct)

Publications, Most Recent

Guan, M.X, Fischel-Ghodsian,N. and Attardi,G. (2000) A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity.Hum. Mol. Genet. 9: 1787-1793.

Guan, M.X., Fischel-Ghodsian,N. and Attardi,G. (2001) Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation.Hum. Mol. Genet. 10: 573-580.

Li, X., Li,R., Lin,X. and Guan,M.X. (2002) Isolation and characterization of the putative nuclear modifier gene MTO1 involved in the pathogenesis of deafness-associated mitochondrial 12S rRNA A1555G mutation.J. Biol. Chem. 277:27256-27264.

Li, X. and Guan,M.X. (2002) A human mitochondrial GTP binding protein related to tRNA modification may modulate the phenotypic expression of the deafness-associated mitochondrial 12S rRNA mutation.Mol. Cell. Biol. 22:7701-7711.

Li, R., Xing, G., Yan, M., Cao, X., Liu, X. Z., Bu, X. and Guan, M.X. (2004) Cosegregation of C-insertion at position 961 with A1555G mutation of mitochondrial 12S rRNA gene in a large Chinese family with maternally inherited hearing loss.Am. J. Med. Genet. 124A: 113-117.

Zhao, H., Li, R., Wang, Q., Yan, Q., Deng, J.H., Han, D., Bai, Y., Young, W.Y. and Guan, M.X. (2004) Maternally inherited aminoglycoside-induced and non-syndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family.Am. J. Hum. Genet. 74:139-152.

Li, X., Fischel-Ghodsian,N., Schwart, F., Yan, Q., Friedman,R.A. and Guan,M.X. (2004) Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafness.Nucleic Acids Res. 32: 867-877.

M.X. Guan, (2004) Molecular pathogenetic mechanism of maternally inherited deafness.Ann. N.Y. Acad. Sci. 1011:259-271.

Li, R., Greinwald, J.H., Yang, L., Choo, D.I., Wenstrup, R.J. and Guan, M.X. (2004) Molecular analysis of mitochondrial 12S rRNA and tRNASer(UCN) genes in pediatric subjects with nonsyndromic hearing loss.J. Med. Genet. 41:615-620.

Li Z, Li R, Chen J, Liao Z, Zhu Y, Qian Y, Xiong S, Heman-Ackah S, Wu J, Choo DI, Guan MX. (2005) Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss.Hum Genet 117:9-15.

Wang Q, Li R, Zhao H, Peters JL, Liu Q, Yang L, Han D, Greinwald JH, Jr., Young WY, Guan MX. (2005) Clinical and molecular characterization of a Chinese patient with auditory neuropathy associated with mitochondrial 12S rRNA T1095C mutation.Am J Med Genet A 133:27-30.

Yan Q, Li X, Faye G, Guan MX. (2005) Mutations in MTO2 related to tRNA modification impair mitochondrial gene expression and protein synthesis in the presence of a paromomycin resistance mutation in mitochondrial 15 S rRNA.J Biol Chem 280:29151-7.

Yuan H, Qian Y, Xu Y, Cao J, Bai L, Shen W, Ji F, Zhang X, Kang D, Mo JQ, Greinwald JH, Han D, Zhai S, Young WY, Guan MX. (2005) Cosegregation of the G7444A mutation in the mitochondrial COI/tRNA(Ser(UCN)) genes with the 12S rRNA A1555G mutation in a Chinese family with aminoglycoside-induced and nonsyndromic hearing loss.Am J Med Genet A 138:133-40.

Zhao H, Young WY, Yan Q, Li R, Cao J, Wang Q, Li X, Peters JL, Han D, Guan MX. (2005) Functional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and non-syndromic hearing loss.Nucleic Acids Res 33:1132-9.

Qu J, Li R, Tong Y, Zhou X, Lu F, Qian Y, Hu Y, Mo JQ, West CE, Guan MX (2006) The novel A4435G mutation in the mitochondrial tRNAMet may modulate the phenotypic expression of the LHON-associated ND4 G11778A mutation in a Chinese family.Invest. Ophth. Vis. Sci. 47:475-83.

Li R, Qu J, Zhou X, Tong Y, Lu F, Qian Y, Hu Y, Mo JQ, West CE, Guan MX (2006) The mitochondrial tRNAThr A15951G mutation may influence the phenotypic expression of the LHON-associated ND4 G11778A mutation in a Chinese family.Gene 376:79-86.

Guan MX, Yan Q, Li X, Bykhovskaya Y, Gallo-Teran J, Hajek P, Umeda N, Zhao H, Garrido G, Mengesha E, Suzuki T, del Castillo I, Peters JL, Li R, Qian Y, Wang X, Ballana E, Shohat M, Lu J, Estivill X, Watanabe K, Fischel-Ghodsian N. (2006) Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations.Am. J. Hum. Genet. 79:291-302.