Mutational analysis of parkin gene by denaturing high-performance liquid chromatography (DHPLC) in essential tremor.
OBJECTIVE
To evaluate the relationship between point mutations within the parkin gene and essential tremor (ET).


BACKGROUND
Essential tremor, the most common movement disorder, has long been recognised as an autosomal dominant disease. To date the genes involved in ET pathogenesis are still unknown. Several authors reported the association of ET with Parkinson's disease (PD).


METHODS
One hundred and ten unrelated ET patients were analysed for point mutations within the parkin gene. Experimental conditions for DHPLC mutational analysis of the coding region of the parkin gene were set up.


RESULTS
Neither obvious disruptive mutations, nor mutations previously described in patients with Parkinson's disease were identified in the cohort of patients analysed. DHPLC analysis detected two already reported polymorphisms [c.1138G>C (V380L) and c.1180G>A (D394N)], and four novel rare variants (frequency <1%) [c.645C>A (H215Q); c.847C>T (H279H); c.1393G>A (V465M) and c.2695A>G] located within exonic regions. Four new polymorphisms [c.413-20T>C; c.872-35G>A; c.872-68C>G; c.1286-117A>G], and one rare variant (c.934-3C>T) were also found within intronic regions.


CONCLUSIONS
Causative sequence variants in the parkin gene have not been identified in this cohort of Italian ET patients.
Pigullo
Simona
S
Department of Neurosciences, Ophthalmology and Genetics, Section of Medical Genetics, University of Genoa c/o DIMI, Viale Benedetto XV 6, 16132 Genoa, Italy.
De Luca
Alessandro
A
Barone
Paolo
P
Marchese
Roberta
R
Bellone
Emilia
E
Colosimo
Alessia
A
Scaglione
Cesa
C
Martinelli
Paolo
P
Di Maria
Emilio
E
Pizzuti
Antonio
A
Abbruzzese
Giovanni
G
Dallapiccola
Bruno
B
Ajmar
Franco
F
Mandich
Paola
P
D000368:Aged; D002851:Chromatography, High Pressure Liquid; D004252:DNA Mutational Analysis / Q000379:methods*; D020329:Essential Tremor / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D007558:Italy; D008875:Middle Aged; D017354:Point Mutation; D012680:Sensitivity and Specificity; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
D044767:Ubiquitin-Protein Ligases; C111567:parkin protein