A5068062411- Ovarian function and disorders
- Reproductive Health and Contraception
- Lysosomal Storage Disorders Research
- Cellular transport and secretion
- Hormonal and reproductive studies
- Reproductive Biology and Fertility
- Gestational Diabetes Research and Management
- Pregnancy and preeclampsia studies
- Calcium signaling and nucleotide metabolism
- Pancreatic function and diabetes
- Bariatric Surgery and Outcomes
- Endometriosis Research and Treatment
- Assisted Reproductive Technology and Twin Pregnancy
- Uterine Myomas and Treatments
- Mitochondrial Function and Pathology
- Diabetes and associated disorders
- ATP Synthase and ATPases Research
- Viral gastroenteritis research and epidemiology
- Estrogen and related hormone effects
- Pregnancy-related medical research
- Epigenetics and DNA Methylation
- Endoplasmic Reticulum Stress and Disease
- Reproductive tract infections research
- Viral Infections and Vectors
- Sexual function and dysfunction studies
University of Helsinki
2019-2025
Helsinki University Hospital
2010-2025
Institute for Molecular Medicine Finland
2001-2008
The endosomal/lysosomal transmembrane protein CLN3 is mutated in the Batten disease (juvenile neuronal ceroid lipofuscinosis, JNCL). However, molecular mechanism of JNCL pathogenesis and exact function have remained unclear. Previous studies shown that deletion BTN1, yeast orthologue CLN3, leads to increased expression BTN2. BTN2 encodes Btn2p, a proposed homologue novel microtubule-binding Hook1, which regulates endocytosis Drosophila. We analysed here putative interconnection between Hook1...
Batten disease (juvenile neuronal ceroid lipofuscinosis, JNCL), the most common neurodegenerative of childhood, is caused by mutations in CLN3 gene encoding a putative transmembrane protein. The function currently unknown but it has been shown to localize endosomal/lysosomal compartments non-neuronal cells. In addition, several other intracellular localizations have proposed and controversy reports suggests that may different localization cell types. severely affects cells leaves organs...
The aim of this work was to examine the progression type 1 and 2 diabetes after gestational mellitus (GDM) in a 23 year follow-up study.We carried out cohort study 391 women with GDM diagnosed by an OGTT or use insulin treatment during pregnancy, age- parity-matched control participants, who delivered 1984-1994 at Oulu University Hospital, Finland. Diagnostic cut-off levels for glucose were as follows: fasting, ≥4.8 mmol/l; h, ≥10.0 ≥8.7 mmol/l. Two questionnaires sent (in 1995-1996...
Abstract Intracellular pathways leading to neuronal degeneration are poorly understood in the juvenile ceroid lipofuscinosis (JNCL, Batten disease), caused by mutations CLN3 gene. To elucidate early pathology, we carried out comparative global transcript profiling of embryonic, primary cultures Cln3 −/− mouse neurons. Statistical and functional analyses delineated three major cellular or compartments affected: mitochondrial glucose metabolism, cytoskeleton, synaptosome. Further studies...
Infantile neuronal ceroid lipofuscinosis (INCL) is a severe neurodegenerative disease caused by deficiency of palmitoyl protein thioesterase 1 (PPT1). INCL results in dramatic loss thalamocortical neurons, but the mechanism has remained elusive. In present work we describe first interaction partner PPT1, F1-complex mitochondrial ATP synthase, co-purification and vitro-binding assays. addition to mitochondria, subunits have been reported localize plasma membrane, be capable acting as...
To study ferritin levels, and potential factors influencing them, in women with polycystic ovary syndrome (PCOS), to investigate associations between levels other parameters these women. Longitudinal general population -based cohort study, including data from both questionnaires clinical measurements. The was conducted the participants of Women's Health Study, a total 1918 Finnish women, around 35 years age. PCOS defined according Rotterdam criteria by presence at least two following...
Abstract Introduction Contraceptives containing ethinylestradiol (EE) induce changes in the coagulation system and are associated with a risk of venous thromboembolism. However, studies comparing effects combined oral contraceptives EE low‐potency estrogens (ie, estradiol [E 2 ] valerate [EV]) on biomarkers limited. This study represents secondary outcomes randomized trial EV + dienogest (DNG), DNG, DNG alone selected biomarkers. We could compare specific different estrogen components owing...
Infertility is a global public health issue which leads many couples to seek fertility treatments, of in vitro fertilization (IVF) considered be the most effective. Still, only about one-third women achieve live birth after first IVF embryo transfer (IVF-ET). Factors affecting implantation are poorly known, but female reproductive tract microbiota may play key role. Our study confirms beneficial role vaginal lactobacilli, especially Lactobacillus crispatus, probability achieving clinical...
Abstract Introduction The incidence of gestational diabetes mellitus (GDM) is globally increasing, and it has been associated with later type 2 diabetes, metabolic syndrome (MetS), cardiovascular disease (CVD). However, long‐term population‐based studies investigating common CVD risk factors years after pregnancy are lacking. To evaluate the future mortality morbidity in diseases, we conducted a thorough investigation midlife women without previous GDM. Material Methods A prospective cohort...
Abstract Context Combined oral contraceptives (COCs) alter inflammatory status and lipid metabolism. Whether different estrogens have effects is poorly understood. Objective We compared the of COCs containing ethinyl estradiol (EE) or valerate (EV) dienogest (DNG) with those DNG only on inflammation Design Randomized, controlled, open-label clinical trial. Setting Two-center study in Helsinki Oulu University Hospitals. Participants Fifty-nine healthy, young, nonsmoking women regular...
Abstract STUDY QUESTION Does an estradiol-based combined oral contraceptive (COC) have a milder effect on the serum proteome than ethinylestradiol (EE)-based COC or dienogest (DNG) only? SUMMARY ANSWER The changes in were multifold after use of synthetic EE-based compared to natural estrogen progestin-only preparation. WHAT IS KNOWN ALREADY COCs widely affect metabolism, inflammation, hepatic protein synthesis and blood coagulation. Studies comparing proteomes containing EE estrogens are...
Limited studies have compared the effects of combined oral contraceptives (COCs) containing natural estrogens and synthetic ethinylestradiol (EE) on reproductive hormones.To compare estradiol valerate (EV) + dienogest (DNG), EE DNG, DNG alone (active control) levels follicle stimulating hormone (FSH), luteinizing hormone, anti-Müllerian (AMH), ovarian steroids, sex binding globulin (SHBG), free androgen index (FAI).This spin-off study from a randomized trial enrolled 59 healthy, 18 to...
Abstract The Women’s Health Study (WENDY) was conducted to improve insights into women’s health and burden. It provides a unique, comprehensive data source that can be broadly utilized understand gynecological symptoms, diseases, their relation metabolic overall more deeply in population-based setting. study Finland from May 2020 October 2022. included 1918 women (33-37 years old) who were born northern between July 1985 December 1987. Data collection comprised one 3- 4-hour visit clinical...
Objective To study the predictive value of autoantibodies for type 1 (T1DM) and 2 (T2DM) diabetes morbidity after gestational (GDM) in a 23-year follow-up study. Design Prospective population-based cohort Methods We studied 391 women with GDM, age- parity-matched controls, who delivered 1984–1994. Four were analysed first-trimester blood samples: islet cell (ICAs), glutamic acid decarboxylase (GADAs), insulin (IAAs) insulinoma-associated antigen-2 (IA-2As). Two questionnaires (1995–1996,...
Objective To study the use of hormone therapy (HT), morbidity and reproductive outcomes women with primary ovarian insufficiency (POI) due to FSH-resistant ovaries (FSHRO). Design A prospective follow-up in a university-based tertiary clinic setting. Methods Twenty-six an inactivating A189V FSH receptor mutation were investigated by means health questionnaire clinical examination. Twenty-two returned 14 clinically examined. Main outcome measures reported as HT, morbidity, medication...
Follicle-stimulating hormone (FSH) is crucial in the development and regulation of reproductive functions. The actions human FSH its receptor (FSHR) mutations therein have mainly been studied using vivo models, primary cells, cancer cells cell lines ectopically expressing FSHR. To allow studies endogenous FSHR function vitro, we differentiated FSHR-expressing from pluripotent stem cells. stimulation wild-type (WT), but not inactivating Finnish founder mutant (A189V) receptor, activated...