29 research outputs found
Peran Lembaga Pengabdian dan Pengembangan Masyarakat (LP2M) Pesantren Al-Luqmaniyyah Yogyakarta dalam Mengurangi Masalah Krisis Keagamaan di Masyarakat Pelosok
Get PDFPenelitian ini berfokus pada salah satu kegiatan pengabdian yang telah terprogram setiap tahunnya di pondok pesantren Al-Luqmaniyyah Yogyakarta. Sasaran Pengabdian ini dikonsentrasikan pada daerah terpelosok yang dirasa masih membutuhkan pengembangan dan pemberdayaan. Khususnya mengenai pemahaman keagamaan masyarakat yang dinilai masih awam. Metode yang digunakan adalah metode kualitatif deskriptif. Penulis menceritakan hasil pengamatan dan pengalamannya serta dengan penelusuran dari data-data yang sudah didapat dari beberapa responden terkait. Pengambilan data pada penelitian ini menggunakan wawancara semi terstruktur dan observasi. Teknik analisis data dilakukan dengan cara reduksi data, penyajian data, dan penarikan kesimpulan. Hasil penelitian menunjukkan bahwa program tahunan Lembaga Pengabdian dan Pengembangan Masyarakat (LP2M) Pesantren Al-Luqmaniyyah yang dilaksanakan oleh santri-santri sebagai penggeraknya di lapangan, mampu untuk mengurangi krisis keagamaan di masyarakat. Selain itu pula dampak yang dirasakan masyarakat selaku objek dan santri sebagai subjek dari Lembaga Pengabdian dan Pengembangan Masyarakat ini bisa dirasakan oleh seluruh pihak terkait. Lembaga pengabdian dan pengembangan pondok pesantren ini juga masih tetap eksis dari awal berdiri hingga saat ini. This research focuses on one of the yearly programmed service activities at the Al-Luqmaniyyah Yogykarta Islamic boarding school. This Community Service target focuses on remote areas that still need development and empowerment. Especially regarding the religious understanding of the community which is still common. The method used is descriptive qualitative method. The author tells the results of his observations and experiences and also presents the results of tracing data obtained from several related respondents. The data collection process in this research used semi-structured interviews and observations. The data analysis technique was carried out by means of data reduction, data presentation, and drawing conclusions. The results showed that the annual program of the Institute for Community Service and Development (LP2M) of Al-Luqmaniyyah Islamic Boarding School which was implemented by the students as a driving force was able to reduce the religious crisis in society. In addition, the impact felt by the community as objects and students as subjects of this Community Service and Development Institute can be felt by all parties involved. This institution also still exists today
Pendidikan Tauhid Yang Terkandung Dalam Surat Al-ikhlas Menurut Tafsir Ibnu Katsir
Get PDFTauhid is He (Allah) who is One and the One, there is no creature that resembles it and does not have equality, comparison, rival, who likes it. Thing that can lead people to not associate with God. Customs or human traditions greatly deviate from the teachings of tauhid. This mistake in understanding the teachings of tauhid causes a part of Muslim to supplicate Allah. In the midst of society there are attitudinal problems related to tauhid, such as a part of the community and santri in Probolinggo, East Java, believing someone named Dimas Kanjeng is someone who is able to double money. Events like this are things that must be resolved so that errors in understanding the teachings of tauhid can be anticipated and understood by all generations of Indonesian Muslim. So the author is interested in lifting the title this study on tauhid education that contains in surah Al-Ikhlas according to the Ibnu Katsir tafsir. The author will describe what tauhid education contained in surah Al-Ikhlas according to Ibnu Katsir. The purpose of this study is to find out how tauhid education according to Ibnu Katsir. The type of rstudy is library study. Data analysis techniques in this study, namely: data reduction, data model, conclusion, tauhid education contained in surah Al-Ikhlas according to the interpretation of Ibnu Katsir is ahad (oneness of Allah), kamil (the perfection of God)
In Between: An Interlayer Material Study for Interlocking Cast Glass Blocks
No full textInterlocking cast glass assemblies are a promising solution for architectural cast-glass applications aiming for high transparency and a reversible structure that allows the reuse of the glass components (Oikonomopoulou et al.,2018; Oikonomopoulou,2019b). In such a system, an interlayer material between the glass elements is essential, to assist the homogenous stress distribution and account for the surface microasperities of the glass elements. Towards circularity, this material should be dry (and not an adhesive), allowing for the eventual disassembly of the system. Previous experimental work by (Aurik at al.,2018; Oikonomopoulou at al.,2019b) has focused on the use of PU and PVC interlayers as suitable candidates; the focus in those studies has been solely placed on the mechanical performance of the interlayer material. This research provides a review of potential material candidates suitable for interlayers of an interlocking cast glass assembly based on a set of revised design and performance criteria that are divided into primary and secondary. Furthermore, the impact their unique material properties have on the potential application of the interlocking system is examined. The whole process, from fabrication to construction of the entire assembly, based on an assumed building scenario, is presented in a chain reaction manner, whose starting point is the interlayer itself. After defining the design criteria the interlayer should adhere to, the proposed candidates are: PETG sheets (Vivak®), Neoprene, Aluminum, Laminated Polyurethane (PU) and a Soft-core aluminum interlayer. The unique properties and fabrication challenges of all five proposed interlayers are considered, as well as their properties in relation to assembly, which leads to the development of two distinct assembly sequences. The main distinction concerns the interlayers that risk creeping and those that do not. The research concludes with a comparison between the interlocking assembly and the other glass block assemblies currently applied.Structural Design & MechanicsBuilding Product Innovatio
تطبيق أنماط النبر والتنغيم على خطاب معلق كرة القدم (عصام الشوالي) في دوري أبطال أوروبا
Get PDFمستخلص البحث
أحد العناصر فوق القطعية التي لها تأثير في تغيير المعنى هو النبر والتنغيم. كذالك في البيانات التي يقولها معلقو كرة القدم تكون عفوية، مما يسبب إلى ظهور مجموعة متنوعة فريدة من اللغات ونادرًا ما يُسمع عن تنوع اللغات. المؤلف مهتم أن يبحث عن خطاب عصام الشوالي عندما أصبح معلقًا في إحدى مباريات كرة القدم الأوروبية لأنه أحد أكثر المعلقين خبرة. أسئلة البحث: 1) كيف أنماط النبر و التنغيم على خطاب معلق كرة القدم (عصام الشوالي) في دوري أبطال أوروبا 2020؟. 2) هل بوجود النبر و االتنغيم على خطاب معلق كرة القدم (عصام الشوالي) في دوري أبطال أوروبا 2020 يسمح بتغيير المعنى؟.
يستحدم هذا نوع البحث كيفيا، وصفيا، وبالدراسة المكتبية لأن البيانات مذكورة في حالة طبيعية أو كما هي، دون تغيير شكل رموز أو أرقام. مصادر البيانات في هذا البحث هي خطاب المعلق عصام الشوالي في نصف نهائي دوري أبطال أوروبا، مبارة بايرن ميونخ و ليون في سنة 2020 التي تم الرفع بواسطة القناة اليوتيوب Galaxy KooRA HD. استخدم الباحث ثلاث طرق في جمع البيانات من البحث، وهي: طريقة المشاهدة، طريقة الاستماع، طريقة الملاحظة. وطريقة تحليل البيانات المستخدمة هي طريقة تقليل البيانات، طريقة عرض البيانات و استخلاص النتائج.
نتائج من هذه الدراسة: (1) يعني أنماط النبر والتنغيم من خطاب عصام الشاوالي، وجد الباحث 9 كلمات تتكون من مقطع واحد، و 22 كلماة تتكون من مقطع قصيرة، و 22 كلماة تتكون من مقطع طويلة، وجد الباحث 58 كلمة تتكون من المقاطع المتنوعة، وكلمتان على وزن "انفعل" أو "افتعل"، وكلمتان ينتهيان بضمير النصب المتصل طويلا، 4 كلمات قصيرا. 8 جمل أدوات الاستفهم وواحدة تقع في أدوات النفي، و 3 جمل في الكلماة الطلبية، و 14 جملة في المبتدأ، و 14 جملة في الخبر، 27 جملة يحتوي على جمل لها النبر في أية كلمة في الجملة يراد التوكيد معناها. ثم وجد الباحث أنماط التنغيم وهي 45 جملة أو كلام بخط /231/، و جملتان بخط /233/، وجملة واحدة بالتنغيم الخفيف وبخط /2/، ثم 20 جملة بخط /244/. (2) ثم تغيير المعنى في أنماط النبر والتنغيم من خطاب عصام الشاوالي يعني 12 تغيير المعنى، وهي النبر في الكلمتين تتكونان من مقاطع طويلة، كلمة تتكون كلمة على وزن انفعل، جملة تتكون من "ما" نافية، والتنغيم في ثلاث جمل بخط /233/، وجملة واحدة بخط /321/، أربع جمل بخط /244/.
ABSTRACT
One of the supra-deterministic elements that has the effect of changing meaning is word stress and intonation. Also, the statements made by football commentators are spontaneous, causing the emergence of a unique variety of languages and the diversity of languages is rarely heard. The author is interested to search for Issam Chaouali’s speech when he became a commentator in a European football match because he is one of the most experienced commentators. Research questions: 1) What are the patterns of word stress and intonation on the speech of football commentator (Issam Chaouali) in the 2020 UEFA Champions League? 2) Does the presence of word stress and intonation in the speech of football commentator (Issam Chaouali) in the 2020 UEFA Champions League allow the meaning to be changed?.
This type of research is used qualitatively, descriptively, and desk studies because the data are stated in a natural state or as a fact, without changing the form of symbols or numbers. The data sources in this research are the speech of commentator Issam Chaouali in the semi-finals of the Champions League, Bayern Munich and Lyon in the year 2020, which was uploaded by the YouTube channel Galaxy KooRA HD. The researcher used three methods of research: the method of observation, the method of listening, and the method of observation. The method of data analysis used is the method of data reduction, the method of displaying the data and drawing conclusions.
Results from this study: (1) the patterns of word stress and intonation on the Issam Chaouali’s speech the researcher found 9 words consist of one syllable, and 22 words consist of a short syllable, and in the word consisting of long syllables 22 words, 58 words consist of various syllables, two words on the weight of “انفعل” or “افتعل”, two words that end with the long accusative pronoun, 4 words that end with the short accusative pronoun. 8 sentences in the interrogative tools and a sentence in the negation tools, and 3 sentences in the demand words, and 14 sentences in the subject, and 14 sentences in the predicate, 27 sentences that contain sentences that have the stress on any word in the sentence whose meaning is to be emphasized. Then the researcher found the patterns of intonation, which are 45 sentences or words in pattern /231/, two sentences in pattern /233/, and one sentence with light intonation in pattern /2/, then 20 sentences in pattern /244/. (2) Then 12 changes of the meaning in the patterns of word stress and intonation from the speech of Issam Al-Shawali: two words stress consisting of long syllables, a word consisting of a word with an inflectional weight, a sentence consisting of “what” negative, and intonation in three sentences in pattern /233/, and a sentence in pattern /321/, and four sentences in pattern/ 244/.
ABSTRAK
Salah satu unsur supra-segmental yang berpengaruh terhadap perubahan makna adalah penekanan kata dan intonasi. Pernyataan yang dilontarkan komentator sepak bola juga spontan, sehingga memunculkan ragam bahasa yang unik dan jarang terdengar. Penulis tertarik untuk meneliti pidato Issam Chaouali ketika menjadi komentator di pertandingan sepakbola Eropa karena dia adalah salah satu komentator yang paling berpengalaman. Rumusan masalah pada penelitian: 1) Bagaimana pola tekanan kata dan intonasi pada tuturan komentator sepakbola (Issam Chaouali) di UEFA Champions League 2020?, 2) Apakah dengan adanya penekanan kata dan intonasi dalam tuturan komentator sepakbola (Issam Chaouali) di Liga Champions UEFA 2020 dapat mempengaruhi perubahan makna?.
Penelitian ini menggunakan jenis penelitian kualitatif, deskriptif, dan kaijan pustaka karena data dinyatakan dalam keadaan alamiah atau apa adanya, tanpa mengubah bentuk simbol atau angka. Sumber data dalam penelitian ini adalah tuturan komentator Issam Chaouali di babak semifinal Liga Champions, Bayern Munchen dan Lyon tahun 2020 yang diunggah oleh saluran Youtube Galaxy KooRA HD. Peneliti ini menggunakan tiga teknik pengumpulan data: teknik tonton, teknik simak, dan teknik catat. Teknik analisis data yang digunakan adalah teknik reduksi data, teknik penyajian data, dan penarikan kesimpulan.
Hasil dari penelitian ini: (1) Yaitu penerapan pola penekanan kata pada Issam Chaouali, peneliti menemukan 9 kata yang terdiri dari satu suku kata, dan 22 kata dengan suku kata pendek, dan 22 kata dengan suku kata panjang, 58 kata terdiri dari suku kata campuran, dua kata dengan bentuk “انفعل” atau “افتعل”, dua kata yang diakhiri dengan kata ganti akusatif panjang, dan 4 kata ganti akusatif pendek. 8 kalimat interogatif dan satu kalimat negasi, 3 kalimat perintah, 14 kalimat pada subjek, dan 14 kalimat pada predikat, dan 27 kalimat mengandung penekanan pada kata yang maknanya perlu ditekankan. Peneliti menemukan pola intonasi, yaitu 45 kalimat dengan pola /231/, dua kalimat dengan pola /233/, dan satu kalimat dengan intonasi datar pada pola /2/, kemudian 20 kalimat dengan pola /244/; (2) Kemudian terdapat 12 perubahan makna pada pola penekanan kata dan intonasi dalam tuturan Issam Chaouali, yaitu dua kata yang terdiri dari satu suku kata yang panjang, satu kata yang terdiri dari satu kata dengan bentuk انفعل, satu kalimat yang terdiri dari kata negatif "ما", intonasi pada tiga kalimat dengan pola /233/, satu kalimat dengan pola /321/, dan empat kalimat dengan pola /244/
A recepção do autor mais citado e referenciado no Congresso Mexicano de Pesquisa Educacional: Pierre Bourdieu
No full textThis study aims to show findings of Pierre Bourdieu's reception in Mexico, for this, it was analyzed 8 editions of the Education Research National Congress in Mexico from 2003 to 2017, through the analysis of the citations and references included in the papers where the author appeared. This study used methodological tools such as content analysis and descriptive statistics to examine the citations and references included in the papers. The results were obtained indicate that French sociologist is the most referenced author, so it was possible to recognize the role by the citation and the referenced works to consider the popularity of the author, in the same way, it was possible to recover some indications about the reception of Bourdieu in Mexico when reading the author through others, either translators or broadcasters. Finally, the study concludes that the quotation can be understood as a measure of consecration, as a condition for academic writing, as a measuring unit, as evaluation criteria, as something that is truly worth fighting for, and as cultural capital. Con el objetivo de brindar algunos hallazgos sobre la recepción de Pierre Bourdieu en el contexto mexicano, se revisaron ocho ediciones del Congreso Nacional de Investigación Educativa (del 2003 al 2017), lo anterior a través del análisis de las citas y referencias incluidas en las ponencias en donde apareció el autor. El estudio empleó herramientas metodológicas como el análisis de contenido y la estadística descriptiva para examinar las citas y referencias incluidas en las ponencias ya mencionadas. Dentro de los resultados, se pudo identificar que el sociólogo francés es el autor más citado y referenciado, además se pudo reconocer el papel que juega la cita y las obras referenciadas para considerar la popularidad del autor, de igual manera fue posible recuperar algunos indicios sobre la recepción de Bourdieu en México al leer al autor a través de otros, ya sea traductores o difusores. Finalmente, el estudio concluye en que la cita puede entenderse como una medida de consagración, como una condición de validez para un texto académico, como un factor de evaluación, como un objeto de lucha y como un capital cultural. A fim de fornecer algumas conclusões sobre a recepção de Pierre Bourdieu no contexto mexicano, oito edições do Congresso Nacional de Pesquisa Educacional foram revisadas (de 2003 a 2017), através da análise de citações e referências incluídas nos trabalhos em que o autor apareceu. O estudo utilizou ferramentas metodológicas tais como análise de conteúdo e estatística descritiva para examinar as citações e referências incluídas nos trabalhos acima mencionados. Entre os resultados, foi possível identificar que o sociólogo francês é o autor mais citado e referenciado, e também foi possível reconhecer o papel desempenhado pelas citações e obras referenciadas ao considerar a popularidade do autor. Também foi possível recuperar algumas indicações da recepção de Bourdieu no México lendo o autor através de outros, sejam tradutores ou disseminadores. Finalmente, o estudo conclui que a citação pode ser entendida como uma medida de consagração, como uma condição de validade de um texto acadêmico, como um fator de avaliação, como um objeto de luta e como capital cultural
Trans-eQTLs Reveal That Independent Genetic Variants Associated with a Complex Phenotype Converge on Intermediate Genes, with a Major Role for the HLA
Get PDFThis is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited
Al-Faruqi's Islamization of Science in Sardar's Critical Perspective
Get PDFThis research conducts an in-depth analysis of Ziauddin Sardar's views on the concept of Islamization of science promoted by Ismail Raji al-Faruqi. By exploring the works of the two figures, this research reveals in detail Sardar's criticisms of the epistemological, paradigmatic and methodological foundations underlying the Islamization of science. The analysis shows that Sardar has fundamental concerns about the potential of the Islamization of science to limit the diversity of knowledge, shift established scientific paradigms, and sacrifice the rigor of research methodology. According to Sardar, attempts to impose Islamic views into all aspects of science risk stifling the development of science as a whole. This study also presents a more thoughtful interpretation. The author argues that the Islamization of science should not be understood as a way to completely overhaul established scientific paradigms and methods. Instead, the Islamization of science can be an opportunity to expand our understanding of natural phenomena by integrating Islamic perspectives. With descriptive analysis, this study concludes that the Islamization of science can be a bridge to a more comprehensive synthesis of knowledge, provided it is done wisely and avoids oversimplification. In responding to the concept of Islamization of science, Sardar offers constructive criticism. He reminds us to maintain harmony between religious values and academic autonomy in advancing science. While critical of certain aspects, Sardar does not entirely dismiss the concept. He advocates for a more inclusive and open dialogue among Muslim scientists and Islamic scholars to collaboratively develop a model of Islamization that is both relevant to contemporary challenges and compatible with the principles of scientific inquiry
TINJAUAN DALIL-DALIL WARIS TERHADAP PRODUK-PRODUK INVESTASI SEBAGAI OBJEK WARIS PERSPEKTIF STUDI ALQUR’AN DAN HADIST TEMATIK: Kajian Waris Islam
Get PDFThis article discusses how the postulates related to inheritance contained in the Qur'an and Sunnah (hadith) are then related to how the concepts contained in these arguments when entering investment products into the inheritance section or are said to be products the investment product is used as the object of inheritance itself. The output determines whether or not the products in the Investment can be used as objects of inheritance. As well as conducting a study of these arguments using a thematic method in which in the study the author determines which arguments will be used in accordance with the theme being carried and then examines them in detail starting from the origins, the sanad, and also about the validity of the arguments. Then also present other hadiths which, if related to the existing theme, are used as reinforcement from the previous hadith.Artikel ini membahas tentang bagaimana dalil-dalil yang berkaitan dengan waris yang terdapat didalam al-qur’an dan sunnah (hadist) kemudian dikaitkan dengan bagaimana konsep yang terkandung dalam dalil-dalil tersebut bila memasukan produk-produk investasi kedalam bagian waris atau dikatakan produk-produk investasi tersebut dijadikan sebagai objek waris itu sendiri. Dengan output menetukan akan dapat digunakan atau tidak produk-produk dalam Investasi untuk dijadikan objek waris. Serta melakukan kajian dalil-dalil tersebut menggunakan metode tematik yang mana dalam pengkajiannya penulis menentukan dalil-dalil mana saja yang akan digunakan sesuai dengan tema yang diusung kemudian mengkajinya secara rinci mulai dari perowinya, sanadnya, dan juga tentang keabsahan matan dari dalil tersebut. Kemudian juga menghadirkan hadist-hadist lain yang sekiranya berkaitan dengan tema yang ada digunakan sebagai penguat dari hadist sebelumnya. 
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways
Get PDFTo newly identify loci for age at natural menopause, we carried out a meta-analysis of 22 genome-wide association studies (GWAS) in 38,968 women of European descent, with replication in up to 14,435 women. In addition to four known loci, we identified 13 loci newly associated with age at natural menopause (at P < 5 × 10(-8)). Candidate genes located at these newly associated loci include genes implicated in DNA repair (EXO1, HELQ, UIMC1, FAM175A, FANCI, TLK1, POLG and PRIM1) and immune function (IL11, NLRP11 and PRRC2A (also known as BAT2)). Gene-set enrichment pathway analyses using the full GWAS data set identified exoDNase, NF-κB signaling and mitochondrial dysfunction as biological processes related to timing of menopause
Anàlisi genètica i funcional de la migranya hemiplègica i la migranya comuna
Get PDF[cat] Aquesta tesi es centra en la genètica de la migranya. La migranya comuna és un trastorn neurològic caracteritzat per episodis recurrents de mal de cap. Els criteris de la IHS (International Headache Society) subclasifiquen la malaltia en migranya amb aura (MA) i migranya sense aura (MO). L'aura són símptomes neurològics transitoris que poden acompanyar el mal de cap. Les aures més freqüents són les aures visuals, tot i que també existeixen les aures sensorials essent l'aura hemiplègica la seva forma severa. La nostra investigació es va dividir en dues areas d'acord amb la base genètica dels trastorns, d'una banda, s'ha estudiat la genètica complexa de la migranya comuna, d'altra banda s'ha estudiat una forma rara de la migranya que presenta una herència mendeliana anomenada migranya hemiplègica familiar (FHM).
Per entendre més la base genètica de la migranya comuna es va utilitzar un estudi d'associació tipus cas-control amb gens candidats. Amb aquesta finalitat es van seleccionar al voltant de 550 pacients amb migranya (MA i MO) i el seu corresponent grup de control. Per tal d'analitzar la seva implicació en la susceptibilitat genètica a la migranya, es van triar gens que codifiquen per als canals de la superfamília heterogeni de potencial receptor transitori (Transient Receptor Potential- TRP) que se sap que estan implicats en les vies nociceptives. Aquesta feina ha donat lloc a una publicació (Carreño et al. SNP variants within the vanilloid TRPV1 and TRPV3 receptor genes are associated with migraine in the Spanish population. Am J Med Genet B Neuropsychiatr Genet. 2012).
En el cas particular de les formes monogèniques de FHM es coneixen tres gens involucrats en la malatia (CACNA1A, ATP1A2 i SCN1A), les proteïnes codificades per aquests gens tenen un paper rellevant en la neurotransmissió del glutamat. L'anàlisi funcional de les mutacions que causen FHM han mostrat en última instància un augment de l'alliberament de la neurotransmissió. En el cas de mutacions al CACNA1A s'ha vist un efecte de guany de funció, a diferència de les mutacions al ATP1A2 que presenten un efecte de pèrdua de funció. En aquest treball s'ha fet un screening mutacional per identificar mutacions en pacients per seqüenciació directa. Quan les mutacions eren suficientment interessants s'han generat construccions en vectors d'expressió per subseqüents estudis funcionals en cèl·lules eucariotes. Aquesta feina ha donat lloc a tres publicacions. A la primera (Serra et al. A mutation in the first intracellular loop of CACNA1A prevents P/Q channel modulation by SNARE proteins and lowers exocytosis. Proc Natl Acad Sci. 2010) es va identificar un canvi que modula la funció del canal de CACNA1A. Aquest estudi ajuda a explicar la contribució genètica en la heterogeneïtat clínica d'una família i a entendre millor el mecanisme molecular dels canals de calci tipus P/Q. El segon (Carreño et al. Acute striatal necrosis in hemiplegic migraine with the novo CACNA1A mutation. Headache. 2011) és un informe d'un pacient que presenta una necrosi aguda stratial. Té una rellevància clínica a causa de l'aparició primerenca dels símptomes neurològics previs als atacs hemiplègics. El tercer i últim treball (Carreño et al. Screening of the ATP1A2 and CACNA1A genes in patients with hemiplegic migraine: clinical, genetic and functional studies. [work in progress]) recull l'screening mutacional al gens ATP1A2 i CACNA1A en 19 pacients amb FHM. Es van identificar 5 mutacions prèviament descrites i dues mutacions noves.[eng] This Thesis is focused in migraine genetics, migraine is a prevalent neurological disorder characterized by recurrent episodes of headache. This research was divided in two areas according to the genetic basis of the disorders; on the one hand we studied the common migraine with a complex genetics, on the other hand we studied the rare mendelian forms of familial hemiplegic migraine (FHM).
To understand more the genetic basis of the common migraine a case-control association study approach was used with candidate genes. For that purpose, around 550 patients with migraine and their corresponding control group were selected. In order to analyze their involvement in the genetic susceptibility to migraine, we chose genes encoding for channels of the heterogeneous superfamily of Transient Receptor Potential (TRP) which are known to be involved in the nociceptive pathway.
In the particular case of FHM, a monogenic form of the disorder, there are three genes known to be involved in the FHM (CACNA1A, ATP1A2 and SCN1A), whose encoded proteins are playing a relevant role in the neurotransmission of the glutamate. Functional analysis of the mutations causing FHM have shown ultimately an increased neurotransmission release. CACNA1A previous studies reveled a gain-of-function effect from FHM mutations, unlike mutations on ATP1A2 that present a loss-of-function effect. Our work consisted on identifying mutations in patients by direct sequencing. If the mutations were interesting enough vector constructions were generated for functional studies in eukaryotic cells. This work gave rise to three publications: First; the identification of a change that modulates the function of the CACNA1A channel. This study contributes to explain the genetic contribution in the clinical heterogeneity of one family and to know more about the molecular mechanism of the P/Q calcium channel. Second; a report of a patient that presents an acute stratial necrosis that had clinical relevance because of the early onset of the neurological symptoms previous to the hemiplegic attacks. Third; a mutational screening of ATP1A2 and CACNA1A genes in 19 patients with FHM. 5 previously described mutations and two new mutations were found. Functional studies were carried out for the newly mutations
