Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients

Journal Article · Thu Jul 01 04:00:00 EDT 1993 · Genomics; (United States)

DOI:https://doi.org/10.1006/geno.1993.1299· OSTI ID:7009534

Shoffner, J M; Brown, M D; Torroni, A; Lott, M T; Cabell, M F; Mirra, S S; Yang, C C; Gearing, M; Salvo, R ^[1]; Beal, M F ^[2]

---

1. Emory Univ. School of Medicine, Atlanta, GA (United States)
2. Harvard Medical School, Boston, MA (United States); and others

Mitochondrial DNA (mtDNA) variants associated with Alzheimer disease (AD) and Parkinson disease (PD) were sought by restriction endonuclease analysis in a cohort of 71 late-onset Caucasian patients. A tRNA[sup Gln] gene variant at nucleotide pair (np) 4336 that altered a moderately conserved nucleotide was present in 9/173 (5.2%) of the patients surveyed but in only 0.7% of the general Caucasian controls. One of these patients harbored an additional novel 12S rRNA 5-nucleotide insertion at np 956-965, while a second had a missense variant at np 3397 that converted a highly conserved methionine to a valine. This latter mutation was also found in an independent AD + PD patient, as was a heteroplasmic 16S rRNA variant at np 3196. Additional studies will be required to determine the significance, if any, of these mutations. 122 refs., 4 figs., 2 tabs.

• OSTI ID: 7009534
• Journal Information: Genomics; (United States), Journal Name: Genomics; (United States) Vol. 17:1; ISSN 0888-7543; ISSN GNMCEP
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
CELL CONSTITUENTS
DISEASES
ETIOLOGY
GENE MUTATIONS
MITOCHONDRIA
MUTATIONS
NERVOUS SYSTEM DISEASES
NUCLEIC ACIDS
ORGANIC COMPOUNDS
RNA
TRANSFER RNA