ABSTRACT
RESUMEN El parkinsonismo constituye un conjunto de signos y síntomas clínicos caracterizados por bradicinesia y temblor en reposo o rigidez, cuya causa más frecuente es la enfermedad de Parkinson (EP). La gran mayoría de los casos de EP son esporádicos, sin embargo, existe una minoría en la cual la etiología se debe a una mutación heredada, ya sea autosómica dominante (AD), autosómica recesiva (AR) o herencia ligada al X. La identificación de estas causas heredables es importante para una adecuada consejería genética y tratamiento. Se presenta el caso de un paciente con EP de inicio temprano en el que se identificó una mutación AD en el gen GIGYF2 o PARK11, asociado a una breve revisión de la literatura
SUMMARY Parkinsonism constitutes a set of clinical signs and symptoms characterized by bradykinesia and tremor at rest and / or rigidity. The main etiology is Parkinson's disease (PD), but there are other causes such as atypical parkinsonism. The vast majority of PD cases are sporadic, however, there is a minority where the etiology is due to an inherited mutation, either autosomal dominant (AD), autosomal recessive (RA), or X-linked inheritance. Identifying these heritable causes is important for proper genetic counseling and treatment. We present the case of a patient with early-onset PD where an AD mutation in the GIGYF2 gene (PARK11) was identified. We subsequently present a brief review of the literature.
Subject(s)
Parkinson Disease , Parkinsonian Disorders , Genetic Loci , GeneticsABSTRACT
Thyroid cancer has one of the highest hereditary component among human malignancies as seen in medical epidemiology investigations, suggesting the potential meaningfulness of genetic studies. Here we review researches into genetic variations that influence the chance of developing non-familial differentiated thyroid cancer (DTC), focusing on the major findings of the genome-wide association studies (GWASs) of common single-nucleotide polymorphisms (SNPs). To date, eight GWAS have been performed, and the association of a number of SNPs have been reproduced in dozens of replication investigations across different ethnicities, including Korea and Japan. Despite the cumulative effect of the strongest SNPs demonstrates gradual increase in the risk for cancer and their association signals are statistically quite significant, the overall prediction ability for DTC appears to be very limited. Thus, genotyping of common SNPs only would be insufficient for evidence-based counseling in clinical setting at present. Further studies to include less significant and rare SNPs, non-SNP genetic information, gene-gene interactions, ethnicity, non-genetic and environmental factors, and development of more advanced computational algorithms are warranted to approach to personalized disease risk prediction and prognostication.
Subject(s)
Humans , Counseling , Epidemiology , Genetic Loci , Genetic Predisposition to Disease , Genetic Testing , Genetic Variation , Genome-Wide Association Study , Japan , Korea , Polymorphism, Genetic , Polymorphism, Single Nucleotide , Thyroid Gland , Thyroid NeoplasmsABSTRACT
BACKGROUND:Pierre Robin Sequence is a congenital malformation which is characterized by micrognathia, glossoptosis and respiratory tract obstruction with or without cleft palate. SOX9, KCNJ2, Ptprs and Ptprf are probably connected with Pierre Robin Sequence. OBJECTIVE:To review the recent progress in the researches on the related genes about Pierre Robin Sequence. METHODS:A computer-based online search of CNKI database and PubMed database was performed to retrieve the relevant articles published from January 1999 to September 2014 with the key words of“micrognathia, Pierre Robin Sequence, mutation, gene locus”in Chinese and English, respectively. Final y, 58 articles were included for review after deleting unrelated and repetitive ones. RESULTS AND CONCLUSION:SOX9, KCNJ2, Ptprs and Ptprf are probably connected with Pierre Robin Sequence. Recently, the research on the genes connected with Pierre Robin Sequence focuses on 17q23-24, and smal sample cases are commonly seen. But, further large sample test and case analysis, as wel as related animal models are needed to analyze the role of these genes in the pathogenesis of Pierre Robin sequence, as wel as consequently, we can analyze the etiology and pathogenesis of Pierre Robin sequence.
ABSTRACT
La enfermedad arterial coronaria y la diabetes mellitus figuran entre las primeras causas de mortalidad y morbilidad en México. Factores genéticos juegan un papel fundamental en el desarrollo de estas entidades. A partir del reconocimiento y estudio de familias con formas monogénicas de diabetes y distintas dislipidemias asociadas al desarrollo de ateroesclerosis, se han identificado en los últimos años distintos genes y loci relacionados con estos padecimientos a través de estudios de mapeo genético. Estos estudios han evidenciado la heterogeneidad genética que existe en cuanto al tipo de genes involucrados en los distintos grupos étnicos. El estudio de familias mexicanas con diabetes de inicio temprano e hiperlipidemia familiar combinada mostró la participación de distintos loci génicos asociados a estas entidades en la población mexicana. Esto muestra la utilidad de las estrategias de mapeo para la identificación del componente genético de estas entidades en nuestra población.
Coronary artery disease and diabetes mellitus are among the primary mortality and morbidity causes in Mexico. Genetic factors play a fundamental role in the development of these entities. In the past few years due to the recognition and study of families with monogenic forms of diabetes and dislipidemias associated with development of atherosclerosis, several genes and loci have been associated with these conditions through genetic linkage studies. These studies have provided evidence of the genetic heterogeneity that exists and the type of genes involved in different ethnic groups. The study of Mexican families with early onset diabetes and combined familial hyperlipidemia showed the participation of different genetic loci associated with these conditions in the Mexican population. These findings show the value of gene mapping strategies in the identification of the genetic component in these entities in our population.