Detection of compound heterozygous deletions in the parkin gene of fibroblasts in patients with autosomal recessive hereditary parkinsonism (PARK2)

Neuroscience Letters
Kazuhiro NakasoKenji Nakashima

Abstract

Mutations in the parkin gene are a common cause of autosomal recessive, juvenile or early onset parkinsonism (PARK2). In this report, we use RT-PCR to detect compound heterozygous deletions of the parkin gene in fibroblasts from two cases of middle age-onset familial parkinsonism with lower extremities-dominant resting tremor and mild cogwheel rigidity. Although exonic amplification of the parkin gene showed a deletional mutation of exon 3-4, their family histories suggested that the deletional mutations were a compound heterozygous abnormality of discrete origin. Immunoblotting demonstrated that abundant Parkin protein was expressed in fibroblasts, but little expression was detected in lymphocytes. RT-PCR using RNA isolated from the patients' fibroblasts indicated a parkin mutation in this family that consisted of compound heterozygous deletions (del exon3-4/del exon3-5). These results suggest that RT-PCR using the patients' fibroblasts may be helpful for the detection of compound heterozygous abnormalities in the parkin gene.

References

May 19, 2000·Parkinsonism & Related Disorders·T KobayashiY Mizuno
Sep 19, 2001·Journal of Neurology, Neurosurgery, and Psychiatry·V BonifatiA Brice
Jul 12, 2002·Annals of Neurology·Martin KannChristine Klein
Mar 5, 2003·Journal of the Neurological Sciences·Tomonori KobayashiNobutaka Hattori
Mar 12, 2003·Neurology·T ForoudUNKNOWN Parkinson Study Group
Apr 23, 2003·Neurology·N RawalUNKNOWN European Consortium on Genetic Susceptibility in Parkinson's Disease

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Citations

Jul 18, 2006·Biochemical and Biophysical Research Communications·Ditte BjerreKnud Larsen
Jun 9, 2009·Neuroscience Letters·Murat KasapHaluk Vahaboğlu
Apr 3, 2015·Journal of Applied Genetics·Wojciech AmbroziakDorota Hoffman-Zacharska
Jan 11, 2011·Biochimica Et Biophysica Acta·Consiglia PacelliTiziana Cocco
Aug 15, 2015·PloS One·Bashayer R Al-MubarakNada A Al Tassan

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