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M.D. (1981)
University of Iowa
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Charles
A. Thornton
Associate Professor of Neurology
Primary Appointment:
Neurology
GEBS Cluster Affiliations:
NS
- Neuroscience
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Research:
Neurogenetic Disorders |
Contact Information:
E-Mail: cthorn@mail.neurology.rochester.edu |
University of Rochester
School of Medicine and Dentistry
601 Elmwood Ave, Box 603
Rochester, New York 14642
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Medical Center [room]
Phone: (716) [tele]
Fax: (716) [number] |
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Research
Overview
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| Trinucleotide repeat expansions are an important
new class of human mutation. The main focus of our laboratory
is to understand the mechanism of muscle, brain, and heart degeneration
in myotonic dystrophy, the most prevalent trinucleotide repeat
expansion disease. We are currently studying how this unstable
mutation affects the metabolism and function of messenger RNA
molecules that are synthesized from the mutant gene. These unusual
transcripts contain long (10,000 or more nucleotides) tracts
of triplet repeat sequence, and may themselves be toxic for
cells. In addition, we have recently shown that this mutation
can alter the function of neighboring genes, and now we are
studying whether this effect may contribute to tissue degeneration.
Our work extends from studies of metabolic and physiologic derangements
in patients to molecular studies of RNA structure, RNA-protein
interaction, and transcriptional regulation. A variety of models
systems are being developed including transgenics, stably transfected
cell lines, and primary cell cultures from patients. |
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Recent Publications
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- Thornton C, Johnson K, Moxley R:
- Myotonic Dystrophy Patients Have Larger CTG Expansions
in Skeletal Muscle Than in Leucocytes. Annals of Neurology
1994;35:104-107.
- Thornton C, Griggs R, Moxley R:
- Myotonic Dystrophy With No Trinucleotide Repeat Expansion.
Annals of Neurology 1994;35:269-272.
- Welle S, Thornton C, Statt M:
- Myofibrillar Protein Synthesis in Young and Old Human
Subjects After Three Months of Progressive Resistance Training.
American Journal of Physiology 1995;268:E422-E427.
- Welle S, Bhatt K, Thornton C:
- Polyadenylated RNA, Actin mRNA, and Myosin Heavy Chain
mRNA in Young and Old Human Skeletal Muscle. American Journal
of Physiology 1996;270:E224-E229.
- Thornton CA, Wymer JP, Simmons Z, McClain C, Moxley RT
III.
- Expansion of the Myotonic Dystrophy CTG Repeat Reduces
Expression of the Flanking DMAHP Gene. Nature Genetics 1997;
16:407-409.
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