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University of Cincinnati Department of Pediatrics

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Min-Xin Guan, PhD.

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Min-Xin Guan, PhD

Title

Associate Professor

Appointment

Associate Professor of Pediatrics, University of Cincinnati College of Medicine

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

Research

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

Research Grants and Contracts

Ongoing

Nuclear modifier genes in maternally inherited deafness
1 R01-DC-07996
National Institutes of Health, NIDCD
PI: Min-Xin Guan, PhD
7/01/2007-06/30/2011
Funding: $1,000,000 (direct) 

Completed

Biochemical Basis for Maternally Inherited Deafness
United Mitochondrial Disease Foundation, Research Grant Award
PI: Min-Xin Guan, PhD
07/01/01-06/30/03
Funding: $30,000 (Direct)

Deafness Research Foundation, Research Grant Award
PI: Min-Xin Guan, PhD
01/01/02 -12/31/02
Funding: $60,000 (Direct)

The Role of Mitochondrial Genes in Hypertension
R01 AG 18412 (Schwartz)
NIH, NIA (Subcontract with Boston University)
05/01/01-04/30/04
Funding: $675,000 (Direct)

Biochemical Basis of Maternally Inherited Deafness
R03 DC 04958
NIH, NIDCD Small Grant
PI: Min-Xin Guan, PhD
05/01/01-04/30/04
Funding: $150,000 (Direct)

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

Molecular mechanism of aminoglycoside ototoxicity
1 R01 DC 05230
National Institutes of Health, NIDCD
PI: Min-Xin Guan, PhD
09/015/02-08/14/07
Funding: $1,250,000 (Direct)

Publications, Most Recent

Wang X, Lu J, Zhu Y, Yang A, Yang L, Li R, Chen B, Qian Y, Tang X, Wang J, Zhang X, Guan MX. Mitochondrial tRNAThr G15927A mutation may modulate the phenotypic manifestation of ototoxic 12S rRNA A1555G mutation in four Chinese families. Pharmacogenet Genom 2008, (in press).

Chen J, Yuan H, Lu J, Liu X, Wang G, Zhu Y, Cheng J, Wang X, Han B, Yang L, Yang S, Yang A, Sun Q, Kang D, Zhang X, Dai P, Zhai S, Han D, Young WY, Guan MX. Mutations at position 7445 in the precursor of mitochondrial tRNASer(UCN) gene in three maternal Chinese pedigrees with sensorineural hearing loss.Mitochondrion 2008;8:285-92.

Chen B, Sun D, Yang L, Zhang C, Yang A, Zhu Y, Zhao J, Chen Y, Guan M, Wang X, Li R, Tang X, Wang J, Tao Z, Lu J, Guan MX. Mitochondrial ND5 T12338C, tRNACys T5802C and tRNAThr G15927A variants may have a modifying role in the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese pedigrees.Am J Med Genet 2008;146A:1248-58.

Chen J, Yang L, Yang A, Zhu Y, Zhao H, Sun D, Tao Z, Tang X, Wang J, Wang X, Lan J, Li W, Wu F, Yuan Q, Feng J, Wu C, Liao Z, Li Z, Greinwald JH, Lu J, Guan MX. Maternally inherited aminoglycoside-induced and nonsyndromic hearing loss is associated with the 12S rRNA C1494T mutation in three Han Chinese pedigrees.Gene 2007;401:4-11.

Wang X, Yan Q, Guan MX. Deletion of the MTO2 gene related to tRNA modification causes a failure in mitochondrial RNA metabolism in the yeast Saccharomyces cerevisiae.FEBS Letters 2007;581:4228-34.

Qu J, Li R, Zhou X, Tong Y, Yang L, Chen J, Zhao F, Lu C, Qian Y, Lu F, Guan, MX. Cosegregation of the ND4 G11696A mutation with the LHON-associated ND4 G11778A mutation in a four generation Chinese family.Mitochondrion 2007;7:140-6.

Tang X, Yang L, Zhu Y, Wang J, Qian Y, Wang X, Hu L, Tao Z, Wu J, Liao Z, Chen J, Li Z, Lu J, Guan MX. Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12S rRNA mutation.Gene 2007;393:11-9.

Young WY, Zhao L, Qian Y, Li R, Chen J, Yuan H, Dai P, Zhai S, Han D, Guan MX. Variants in mitochondrial tRNAGlu, tRNAArg and tRNAThr may influence the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Chinese families with hearing loss.Am J Med Genet 2006;140A:2188-97.

Guan MX, Yan Q, Li X, Bykhovskaya Y, Gallo-Teran J, Hajek P, et al. 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 2006;79:291-302.

Li R, Qu J, Tong Y, Zhou X, Lu F, Qian Y, Yang L, Hu Y,  Mo JQ, West CE, Guan MX. The novel A11591G mutation in the mitochondrial tRNAThr may influence the phenotypic expression of the LHON-associated ND4 G11778A mutation in a Chinese family.Gene 2006;376:79-86.

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

Guan MX. Prevalence of mitochondrial 12S rRNA mutations associated with aminoglycoside ototoxicity.The Volta Review 2005;105:211-37.

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

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

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. Cosegregation of the G7444A mutation in the mitochondrial COI/tRNASer(UCN) genes with the 12S rRNA A1555G mutation in a Chinese family with aminoglycoside-induced and non-syndromic hearing loss.Am J Med Genet 2005;138A:133-40.

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

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

Professional Organization Memberships

Special Interests

Maternally inherited deafness

Awards and Honors

  • Ad Hoc member, Communication Disorder study section, NIDCD, 2006-present
  • Ad Hoc grant reviewer, Singapore National Medical Research Council, 2006-present
  • Ad Hoc grant reviewer, Medical Research Council of South Africa, 2006-present
  • Outstanding Overseas Young Chinese Scholar, National Science Foundation of China, 2006-2008
  • Ad Hoc member, Diabetes and Obesity study section, NIDDK, 2005-present
  • Sir K.C. Wong Scholar, K.C. WONG Education Foundation, 2005-2006
  • Ad Hoc grant reviewer, Telethon Foundation, Italy, 2004-present
  • Otological Scholar, the Deafness Research Foundation, 2001-2004
  • Research Fellowship, the United Mitochondrial Disease Foundation, 2001-2003

Related Areas

This person works in these other areas at Cincinnati Children's Hospital Medical Center: